7-99754088-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99754088
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99754088
    reference: chr 7
allele count: 1
allele frequency: 8.252050634582693e-6
allele num: 121182
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000324741
  ensembl transcript: ENST00000316937
  gene symbol: C7orf43
  hgvsc: ENST00000316937.3:c.1161T>C
  hgvsp: ENST00000316937.3:c.1161T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000396432
  ensembl transcript: ENST00000457641
  gene symbol: C7orf43
  hgvsc: ENST00000457641.1:c.354T>C
  hgvsp: ENST00000457641.1:c.354T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000399397
  ensembl transcript: ENST00000419037
  gene symbol: C7orf43
  hgvsc: ENST00000419037.1:c.*436+169T>C
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000389672
  ensembl transcript: ENST00000456769
  gene symbol: C7orf43
  hgvsc: ENST00000456769.1:c.877T>C
  hgvsp: ENST00000456769.1:c.877T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000406326
  ensembl transcript: ENST00000419841
  gene symbol: C7orf43
  hgvsc: ENST00000419841.1:c.465T>C
  hgvsp: ENST00000419841.1:c.465T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000400075
  ensembl transcript: ENST00000448720
  gene symbol: C7orf43
  hgvsc: ENST00000448720.1:c.362T>C
  hgvsp: ENST00000448720.1:c.362T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146826
  ensembl transcript: ENST00000498638
  gene symbol: C7orf43
  hgvsc: ENST00000498638.1:n.426T>C
  variant of: http://identifiers.org/hgnc/25604
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23004
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21267
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8707
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3354
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3614
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3677
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Thr387Thr
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

7-99754091-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99754091
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99754091
    reference: chr 7
allele count: 1
allele frequency: 8.253957772752034e-6
allele num: 121154
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000389672
  ensembl transcript: ENST00000456769
  gene symbol: C7orf43
  hgvsc: ENST00000456769.1:c.874C>T
  hgvsp: ENST00000456769.1:c.874C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000396432
  ensembl transcript: ENST00000457641
  gene symbol: C7orf43
  hgvsc: ENST00000457641.1:c.351C>T
  hgvsp: ENST00000457641.1:c.351C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000399397
  ensembl transcript: ENST00000419037
  gene symbol: C7orf43
  hgvsc: ENST00000419037.1:c.*436+166C>T
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000324741
  ensembl transcript: ENST00000316937
  gene symbol: C7orf43
  hgvsc: ENST00000316937.3:c.1158C>T
  hgvsp: ENST00000316937.3:c.1158C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146826
  ensembl transcript: ENST00000498638
  gene symbol: C7orf43
  hgvsc: ENST00000498638.1:n.423C>T
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000400075
  ensembl transcript: ENST00000448720
  gene symbol: C7orf43
  hgvsc: ENST00000448720.1:c.359C>T
  hgvsp: ENST00000448720.1:c.359C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000406326
  ensembl transcript: ENST00000419841
  gene symbol: C7orf43
  hgvsc: ENST00000419841.1:c.462C>T
  hgvsp: ENST00000419841.1:c.462C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25604
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8734
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21243
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22849
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3355
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9355
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Phe386Phe
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff

7-99754094-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99754094
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99754094
    reference: chr 7
allele count: 2
allele frequency: 1.650982334489021e-5
allele num: 121140
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000396432
  ensembl transcript: ENST00000457641
  gene symbol: C7orf43
  hgvsc: ENST00000457641.1:c.348T>C
  hgvsp: ENST00000457641.1:c.348T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000400075
  ensembl transcript: ENST00000448720
  gene symbol: C7orf43
  hgvsc: ENST00000448720.1:c.356T>C
  hgvsp: ENST00000448720.1:c.356T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146826
  ensembl transcript: ENST00000498638
  gene symbol: C7orf43
  hgvsc: ENST00000498638.1:n.420T>C
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000389672
  ensembl transcript: ENST00000456769
  gene symbol: C7orf43
  hgvsc: ENST00000456769.1:c.871T>C
  hgvsp: ENST00000456769.1:c.871T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000324741
  ensembl transcript: ENST00000316937
  gene symbol: C7orf43
  hgvsc: ENST00000316937.3:c.1155T>C
  hgvsp: ENST00000316937.3:c.1155T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000399397
  ensembl transcript: ENST00000419037
  gene symbol: C7orf43
  hgvsc: ENST00000419037.1:c.*436+163T>C
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000406326
  ensembl transcript: ENST00000419841
  gene symbol: C7orf43
  hgvsc: ENST00000419841.1:c.459T>C
  hgvsp: ENST00000419841.1:c.459T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25604
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21229
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3354
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8710
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22788
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3981
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3666
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg385Arg
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum

7-99754095-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99754095
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99754095
    reference: chr 7
allele count: 3
allele frequency: 2.476637057094739e-5
allele num: 121132
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000389672
  ensembl transcript: ENST00000456769
  gene symbol: C7orf43
  hgvsc: ENST00000456769.1:c.870G>A
  hgvsp: ENSP00000389672.1:p.Arg291His
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000396432
  ensembl transcript: ENST00000457641
  gene symbol: C7orf43
  hgvsc: ENST00000457641.1:c.347G>A
  hgvsp: ENSP00000396432.1:p.Arg116His
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000324741
  ensembl transcript: ENST00000316937
  gene symbol: C7orf43
  hgvsc: ENST00000316937.3:c.1154G>A
  hgvsp: ENSP00000324741.3:p.Arg385His
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000406326
  ensembl transcript: ENST00000419841
  gene symbol: C7orf43
  hgvsc: ENST00000419841.1:c.458G>A
  hgvsp: ENSP00000406326.1:p.Arg153His
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000399397
  ensembl transcript: ENST00000419037
  gene symbol: C7orf43
  hgvsc: ENST00000419037.1:c.*436+162G>A
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146826
  ensembl transcript: ENST00000498638
  gene symbol: C7orf43
  hgvsc: ENST00000498638.1:n.419G>A
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000400075
  ensembl transcript: ENST00000448720
  gene symbol: C7orf43
  hgvsc: ENST00000448720.1:c.355G>A
  hgvsp: ENSP00000400075.1:p.Arg119His
  variant of: http://identifiers.org/hgnc/25604
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8728
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21215
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22732
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3359
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3617
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2397
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33543
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg385His
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

7-99754096-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99754096
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99754096
    reference: chr 7
allele count: 1
allele frequency: 8.256411103221652e-6
allele num: 121118
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000324741
  ensembl transcript: ENST00000316937
  gene symbol: C7orf43
  hgvsc: ENST00000316937.3:c.1153C>T
  hgvsp: ENSP00000324741.3:p.Arg385Cys
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146826
  ensembl transcript: ENST00000498638
  gene symbol: C7orf43
  hgvsc: ENST00000498638.1:n.418C>T
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000399397
  ensembl transcript: ENST00000419037
  gene symbol: C7orf43
  hgvsc: ENST00000419037.1:c.*436+161C>T
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000400075
  ensembl transcript: ENST00000448720
  gene symbol: C7orf43
  hgvsc: ENST00000448720.1:c.354C>T
  hgvsp: ENSP00000400075.1:p.Arg119Cys
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000396432
  ensembl transcript: ENST00000457641
  gene symbol: C7orf43
  hgvsc: ENST00000457641.1:c.346C>T
  hgvsp: ENSP00000396432.1:p.Arg116Cys
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000406326
  ensembl transcript: ENST00000419841
  gene symbol: C7orf43
  hgvsc: ENST00000419841.1:c.457C>T
  hgvsp: ENSP00000406326.1:p.Arg153Cys
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000389672
  ensembl transcript: ENST00000456769
  gene symbol: C7orf43
  hgvsc: ENST00000456769.1:c.869C>T
  hgvsp: ENSP00000389672.1:p.Arg291Cys
  variant of: http://identifiers.org/hgnc/25604
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22698
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21214
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3358
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8735
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9336
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3608
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3655
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3980
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg385Cys
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD

7-99754100-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99754100
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99754100
    reference: chr 7
allele count: 4
allele frequency: 3.303164431525401e-5
allele num: 121096
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000396432
  ensembl transcript: ENST00000457641
  gene symbol: C7orf43
  hgvsc: ENST00000457641.1:c.342C>T
  hgvsp: ENST00000457641.1:c.342C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000324741
  ensembl transcript: ENST00000316937
  gene symbol: C7orf43
  hgvsc: ENST00000316937.3:c.1149C>T
  hgvsp: ENST00000316937.3:c.1149C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146826
  ensembl transcript: ENST00000498638
  gene symbol: C7orf43
  hgvsc: ENST00000498638.1:n.414C>T
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000406326
  ensembl transcript: ENST00000419841
  gene symbol: C7orf43
  hgvsc: ENST00000419841.1:c.453C>T
  hgvsp: ENST00000419841.1:c.453C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000400075
  ensembl transcript: ENST00000448720
  gene symbol: C7orf43
  hgvsc: ENST00000448720.1:c.350C>T
  hgvsp: ENST00000448720.1:c.350C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000399397
  ensembl transcript: ENST00000419037
  gene symbol: C7orf43
  hgvsc: ENST00000419037.1:c.*436+157C>T
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000389672
  ensembl transcript: ENST00000456769
  gene symbol: C7orf43
  hgvsc: ENST00000456769.1:c.865C>T
  hgvsp: ENST00000456769.1:c.865C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25604
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3358
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22542
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21258
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8710
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3599
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9334
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Tyr383Tyr
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

7-99754107-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99754107
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99754107
    reference: chr 7
allele count: 1
allele frequency: 8.262004692818665e-6
allele num: 121036
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000406326
  ensembl transcript: ENST00000419841
  gene symbol: C7orf43
  hgvsc: ENST00000419841.1:c.446G>A
  hgvsp: ENSP00000406326.1:p.Arg149Gln
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000400075
  ensembl transcript: ENST00000448720
  gene symbol: C7orf43
  hgvsc: ENST00000448720.1:c.343G>A
  hgvsp: ENSP00000400075.1:p.Arg115Gln
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000396432
  ensembl transcript: ENST00000457641
  gene symbol: C7orf43
  hgvsc: ENST00000457641.1:c.335G>A
  hgvsp: ENSP00000396432.1:p.Arg112Gln
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000324741
  ensembl transcript: ENST00000316937
  gene symbol: C7orf43
  hgvsc: ENST00000316937.3:c.1142G>A
  hgvsp: ENSP00000324741.3:p.Arg381Gln
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000389672
  ensembl transcript: ENST00000456769
  gene symbol: C7orf43
  hgvsc: ENST00000456769.1:c.858G>A
  hgvsp: ENSP00000389672.1:p.Arg287Gln
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000399397
  ensembl transcript: ENST00000419037
  gene symbol: C7orf43
  hgvsc: ENST00000419037.1:c.*436+150G>A
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146826
  ensembl transcript: ENST00000498638
  gene symbol: C7orf43
  hgvsc: ENST00000498638.1:n.407G>A
  variant of: http://identifiers.org/hgnc/25604
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22324
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1594
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21136
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8710
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3357
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9202
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2381
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3590
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg381Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

7-99754108-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99754108
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99754108
    reference: chr 7
allele count: 4
allele frequency: 3.305457310018841e-5
allele num: 121012
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000324741
  ensembl transcript: ENST00000316937
  gene symbol: C7orf43
  hgvsc: ENST00000316937.3:c.1141C>T
  hgvsp: ENSP00000324741.3:p.Arg381Trp
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000399397
  ensembl transcript: ENST00000419037
  gene symbol: C7orf43
  hgvsc: ENST00000419037.1:c.*436+149C>T
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000406326
  ensembl transcript: ENST00000419841
  gene symbol: C7orf43
  hgvsc: ENST00000419841.1:c.445C>T
  hgvsp: ENSP00000406326.1:p.Arg149Trp
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000389672
  ensembl transcript: ENST00000456769
  gene symbol: C7orf43
  hgvsc: ENST00000456769.1:c.857C>T
  hgvsp: ENSP00000389672.1:p.Arg287Trp
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146826
  ensembl transcript: ENST00000498638
  gene symbol: C7orf43
  hgvsc: ENST00000498638.1:n.406C>T
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000396432
  ensembl transcript: ENST00000457641
  gene symbol: C7orf43
  hgvsc: ENST00000457641.1:c.334C>T
  hgvsp: ENSP00000396432.1:p.Arg112Trp
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000400075
  ensembl transcript: ENST00000448720
  gene symbol: C7orf43
  hgvsc: ENST00000448720.1:c.342C>T
  hgvsp: ENSP00000400075.1:p.Arg115Trp
  variant of: http://identifiers.org/hgnc/25604
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21136
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8726
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22277
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3359
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2379
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1084
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3975
  bin: 9.75e1
  variant carriers: 4
hgvs: p.Arg381Trp
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum

7-99754116-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99754116
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99754116
    reference: chr 7
allele count: 1
allele frequency: 8.267879288962381e-6
allele num: 120950
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000389672
  ensembl transcript: ENST00000456769
  gene symbol: C7orf43
  hgvsc: ENST00000456769.1:c.849C>T
  hgvsp: ENSP00000389672.1:p.Ser284Phe
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146826
  ensembl transcript: ENST00000498638
  gene symbol: C7orf43
  hgvsc: ENST00000498638.1:n.398C>T
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000400075
  ensembl transcript: ENST00000448720
  gene symbol: C7orf43
  hgvsc: ENST00000448720.1:c.334C>T
  hgvsp: ENSP00000400075.1:p.Ser112Phe
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000324741
  ensembl transcript: ENST00000316937
  gene symbol: C7orf43
  hgvsc: ENST00000316937.3:c.1133C>T
  hgvsp: ENSP00000324741.3:p.Ser378Phe
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000396432
  ensembl transcript: ENST00000457641
  gene symbol: C7orf43
  hgvsc: ENST00000457641.1:c.326C>T
  hgvsp: ENSP00000396432.1:p.Ser109Phe
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000406326
  ensembl transcript: ENST00000419841
  gene symbol: C7orf43
  hgvsc: ENST00000419841.1:c.437C>T
  hgvsp: ENSP00000406326.1:p.Ser146Phe
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000399397
  ensembl transcript: ENST00000419037
  gene symbol: C7orf43
  hgvsc: ENST00000419037.1:c.*436+141C>T
  variant of: http://identifiers.org/hgnc/25604
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21004
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22205
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8598
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3350
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32706
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1272
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9159
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser378Phe
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

7-99754118-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99754118
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99754118
    reference: chr 7
allele count: 1
allele frequency: 8.269246671628215e-6
allele num: 120930
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146826
  ensembl transcript: ENST00000498638
  gene symbol: C7orf43
  hgvsc: ENST00000498638.1:n.396G>C
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000324741
  ensembl transcript: ENST00000316937
  gene symbol: C7orf43
  hgvsc: ENST00000316937.3:c.1131G>C
  hgvsp: ENSP00000324741.3:p.Lys377Asn
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000399397
  ensembl transcript: ENST00000419037
  gene symbol: C7orf43
  hgvsc: ENST00000419037.1:c.*436+139G>C
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000389672
  ensembl transcript: ENST00000456769
  gene symbol: C7orf43
  hgvsc: ENST00000456769.1:c.847G>C
  hgvsp: ENSP00000389672.1:p.Lys283Asn
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000406326
  ensembl transcript: ENST00000419841
  gene symbol: C7orf43
  hgvsc: ENST00000419841.1:c.435G>C
  hgvsp: ENSP00000406326.1:p.Lys145Asn
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000396432
  ensembl transcript: ENST00000457641
  gene symbol: C7orf43
  hgvsc: ENST00000457641.1:c.324G>C
  hgvsp: ENSP00000396432.1:p.Lys108Asn
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000400075
  ensembl transcript: ENST00000448720
  gene symbol: C7orf43
  hgvsc: ENST00000448720.1:c.332G>C
  hgvsp: ENSP00000400075.1:p.Lys111Asn
  variant of: http://identifiers.org/hgnc/25604
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8626
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22154
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21000
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3346
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3557
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32735
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Lys377Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

7-99754130-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99754130
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99754130
    reference: chr 7
allele count: 7
allele frequency: 5.793167372881356e-5
allele num: 120832
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000406326
  ensembl transcript: ENST00000419841
  gene symbol: C7orf43
  hgvsc: ENST00000419841.1:c.423C>T
  hgvsp: ENST00000419841.1:c.423C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000396432
  ensembl transcript: ENST00000457641
  gene symbol: C7orf43
  hgvsc: ENST00000457641.1:c.312C>T
  hgvsp: ENST00000457641.1:c.312C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000389672
  ensembl transcript: ENST00000456769
  gene symbol: C7orf43
  hgvsc: ENST00000456769.1:c.835C>T
  hgvsp: ENST00000456769.1:c.835C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000399397
  ensembl transcript: ENST00000419037
  gene symbol: C7orf43
  hgvsc: ENST00000419037.1:c.*436+127C>T
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000400075
  ensembl transcript: ENST00000448720
  gene symbol: C7orf43
  hgvsc: ENST00000448720.1:c.320C>T
  hgvsp: ENST00000448720.1:c.320C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146826
  ensembl transcript: ENST00000498638
  gene symbol: C7orf43
  hgvsc: ENST00000498638.1:n.384C>T
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000324741
  ensembl transcript: ENST00000316937
  gene symbol: C7orf43
  hgvsc: ENST00000316937.3:c.1119C>T
  hgvsp: ENST00000316937.3:c.1119C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25604
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21933
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8607
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20793
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3343
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3585
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9038
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 824
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32461
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr373Thr
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

7-99754135-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99754135
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99754135
    reference: chr 7
allele count: 1
allele frequency: 8.27841981522567e-6
allele num: 120796
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146826
  ensembl transcript: ENST00000498638
  gene symbol: C7orf43
  hgvsc: ENST00000498638.1:n.379A>G
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000324741
  ensembl transcript: ENST00000316937
  gene symbol: C7orf43
  hgvsc: ENST00000316937.3:c.1114A>G
  hgvsp: ENSP00000324741.3:p.Met372Val
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000406326
  ensembl transcript: ENST00000419841
  gene symbol: C7orf43
  hgvsc: ENST00000419841.1:c.418A>G
  hgvsp: ENSP00000406326.1:p.Met140Val
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000389672
  ensembl transcript: ENST00000456769
  gene symbol: C7orf43
  hgvsc: ENST00000456769.1:c.830A>G
  hgvsp: ENSP00000389672.1:p.Met278Val
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000400075
  ensembl transcript: ENST00000448720
  gene symbol: C7orf43
  hgvsc: ENST00000448720.1:c.315A>G
  hgvsp: ENSP00000400075.1:p.Met106Val
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000399397
  ensembl transcript: ENST00000419037
  gene symbol: C7orf43
  hgvsc: ENST00000419037.1:c.*436+122A>G
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000396432
  ensembl transcript: ENST00000457641
  gene symbol: C7orf43
  hgvsc: ENST00000457641.1:c.307A>G
  hgvsp: ENSP00000396432.1:p.Met103Val
  variant of: http://identifiers.org/hgnc/25604
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21767
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3332
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20810
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8540
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2338
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 905
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3521
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1082
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3969
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Met372Val
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: African
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

7-99754145-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99754145
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99754145
    reference: chr 7
allele count: 49
allele frequency: 4.061873103768424e-4
allele num: 120634
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000400075
  ensembl transcript: ENST00000448720
  gene symbol: C7orf43
  hgvsc: ENST00000448720.1:c.305G>A
  hgvsp: ENST00000448720.1:c.305G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000389672
  ensembl transcript: ENST00000456769
  gene symbol: C7orf43
  hgvsc: ENST00000456769.1:c.820G>A
  hgvsp: ENST00000456769.1:c.820G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000406326
  ensembl transcript: ENST00000419841
  gene symbol: C7orf43
  hgvsc: ENST00000419841.1:c.408G>A
  hgvsp: ENST00000419841.1:c.408G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000399397
  ensembl transcript: ENST00000419037
  gene symbol: C7orf43
  hgvsc: ENST00000419037.1:c.*436+112G>A
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146826
  ensembl transcript: ENST00000498638
  gene symbol: C7orf43
  hgvsc: ENST00000498638.1:n.369G>A
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000396432
  ensembl transcript: ENST00000457641
  gene symbol: C7orf43
  hgvsc: ENST00000457641.1:c.297G>A
  hgvsp: ENST00000457641.1:c.297G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000324741
  ensembl transcript: ENST00000316937
  gene symbol: C7orf43
  hgvsc: ENST00000316937.3:c.1104G>A
  hgvsp: ENST00000316937.3:c.1104G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25604
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21280
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3336
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1448
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8573
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 5.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20589
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31161
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1259
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1082
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro368Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

7-99754150-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99754150
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99754150
    reference: chr 7
allele count: 1
allele frequency: 8.298479718515568e-6
allele num: 120504
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000406326
  ensembl transcript: ENST00000419841
  gene symbol: C7orf43
  hgvsc: ENST00000419841.1:c.403C>T
  hgvsp: ENSP00000406326.1:p.Arg135Cys
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000396432
  ensembl transcript: ENST00000457641
  gene symbol: C7orf43
  hgvsc: ENST00000457641.1:c.292C>T
  hgvsp: ENSP00000396432.1:p.Arg98Cys
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000399397
  ensembl transcript: ENST00000419037
  gene symbol: C7orf43
  hgvsc: ENST00000419037.1:c.*436+107C>T
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000324741
  ensembl transcript: ENST00000316937
  gene symbol: C7orf43
  hgvsc: ENST00000316937.3:c.1099C>T
  hgvsp: ENSP00000324741.3:p.Arg367Cys
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000400075
  ensembl transcript: ENST00000448720
  gene symbol: C7orf43
  hgvsc: ENST00000448720.1:c.300C>T
  hgvsp: ENSP00000400075.1:p.Arg101Cys
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146826
  ensembl transcript: ENST00000498638
  gene symbol: C7orf43
  hgvsc: ENST00000498638.1:n.364C>T
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000389672
  ensembl transcript: ENST00000456769
  gene symbol: C7orf43
  hgvsc: ENST00000456769.1:c.815C>T
  hgvsp: ENSP00000389672.1:p.Arg273Cys
  variant of: http://identifiers.org/hgnc/25604
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20424
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8585
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21257
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3350
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2303
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1262
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3440
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3474
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3959
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8733
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 777
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 668
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg367Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

7-99754158-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99754158
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99754158
    reference: chr 7
allele count: 5
allele frequency: 4.151513641873827e-5
allele num: 120438
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000406326
  ensembl transcript: ENST00000419841
  gene symbol: C7orf43
  hgvsc: ENST00000419841.1:c.395G>A
  hgvsp: ENSP00000406326.1:p.Arg132His
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000324741
  ensembl transcript: ENST00000316937
  gene symbol: C7orf43
  hgvsc: ENST00000316937.3:c.1091G>A
  hgvsp: ENSP00000324741.3:p.Arg364His
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146826
  ensembl transcript: ENST00000498638
  gene symbol: C7orf43
  hgvsc: ENST00000498638.1:n.356G>A
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000400075
  ensembl transcript: ENST00000448720
  gene symbol: C7orf43
  hgvsc: ENST00000448720.1:c.292G>A
  hgvsp: ENSP00000400075.1:p.Arg98His
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000399397
  ensembl transcript: ENST00000419037
  gene symbol: C7orf43
  hgvsc: ENST00000419037.1:c.*436+99G>A
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000389672
  ensembl transcript: ENST00000456769
  gene symbol: C7orf43
  hgvsc: ENST00000456769.1:c.807G>A
  hgvsp: ENSP00000389672.1:p.Arg270His
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000396432
  ensembl transcript: ENST00000457641
  gene symbol: C7orf43
  hgvsc: ENST00000457641.1:c.284G>A
  hgvsp: ENSP00000396432.1:p.Arg95His
  variant of: http://identifiers.org/hgnc/25604
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8509
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20358
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21220
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3354
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1753
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3464
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 784
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3959
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg364His
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

7-99754159-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99754159
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99754159
    reference: chr 7
allele count: 6
allele frequency: 4.981899099936896e-5
allele num: 120436
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000396432
  ensembl transcript: ENST00000457641
  gene symbol: C7orf43
  hgvsc: ENST00000457641.1:c.283C>T
  hgvsp: ENSP00000396432.1:p.Arg95Cys
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000399397
  ensembl transcript: ENST00000419037
  gene symbol: C7orf43
  hgvsc: ENST00000419037.1:c.*436+98C>T
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146826
  ensembl transcript: ENST00000498638
  gene symbol: C7orf43
  hgvsc: ENST00000498638.1:n.355C>T
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000400075
  ensembl transcript: ENST00000448720
  gene symbol: C7orf43
  hgvsc: ENST00000448720.1:c.291C>T
  hgvsp: ENSP00000400075.1:p.Arg98Cys
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000324741
  ensembl transcript: ENST00000316937
  gene symbol: C7orf43
  hgvsc: ENST00000316937.3:c.1090C>T
  hgvsp: ENSP00000324741.3:p.Arg364Cys
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000406326
  ensembl transcript: ENST00000419841
  gene symbol: C7orf43
  hgvsc: ENST00000419841.1:c.394C>T
  hgvsp: ENSP00000406326.1:p.Arg132Cys
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000389672
  ensembl transcript: ENST00000456769
  gene symbol: C7orf43
  hgvsc: ENST00000456769.1:c.806C>T
  hgvsp: ENSP00000389672.1:p.Arg270Cys
  variant of: http://identifiers.org/hgnc/25604
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1799
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8442
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20390
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1535
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3326
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1585
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21230
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1363
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 784
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2294
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg364Cys
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: DP
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/7-99754164-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99754164
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99754164
    reference: chr 7
allele count: 1
allele frequency: 8.311446524153063e-6
allele num: 120316
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000396432
  ensembl transcript: ENST00000457641
  gene symbol: C7orf43
  hgvsc: ENST00000457641.1:c.278G>T
  hgvsp: ENSP00000396432.1:p.Ser93Ile
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000406326
  ensembl transcript: ENST00000419841
  gene symbol: C7orf43
  hgvsc: ENST00000419841.1:c.389G>T
  hgvsp: ENSP00000406326.1:p.Ser130Ile
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000324741
  ensembl transcript: ENST00000316937
  gene symbol: C7orf43
  hgvsc: ENST00000316937.3:c.1085G>T
  hgvsp: ENSP00000324741.3:p.Ser362Ile
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146826
  ensembl transcript: ENST00000498638
  gene symbol: C7orf43
  hgvsc: ENST00000498638.1:n.350G>T
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000389672
  ensembl transcript: ENST00000456769
  gene symbol: C7orf43
  hgvsc: ENST00000456769.1:c.801G>T
  hgvsp: ENSP00000389672.1:p.Ser268Ile
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000399397
  ensembl transcript: ENST00000419037
  gene symbol: C7orf43
  hgvsc: ENST00000419037.1:c.*436+93G>T
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000400075
  ensembl transcript: ENST00000448720
  gene symbol: C7orf43
  hgvsc: ENST00000448720.1:c.286G>T
  hgvsp: ENSP00000400075.1:p.Ser96Ile
  variant of: http://identifiers.org/hgnc/25604
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2193
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3334
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20234
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8392
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2063
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20450
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3425
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1623
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 805
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30649
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3955
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1066
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser362Ile
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: ClippingRankSum

7-99754167-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99754167
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99754167
    reference: chr 7
allele count: 2
allele frequency: 1.662869780667476e-5
allele num: 120274
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000400075
  ensembl transcript: ENST00000448720
  gene symbol: C7orf43
  hgvsc: ENST00000448720.1:c.283C>A
  hgvsp: ENSP00000400075.1:p.Pro95His
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000406326
  ensembl transcript: ENST00000419841
  gene symbol: C7orf43
  hgvsc: ENST00000419841.1:c.386C>A
  hgvsp: ENSP00000406326.1:p.Pro129His
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000324741
  ensembl transcript: ENST00000316937
  gene symbol: C7orf43
  hgvsc: ENST00000316937.3:c.1082C>A
  hgvsp: ENSP00000324741.3:p.Pro361His
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000389672
  ensembl transcript: ENST00000456769
  gene symbol: C7orf43
  hgvsc: ENST00000456769.1:c.798C>A
  hgvsp: ENSP00000389672.1:p.Pro267His
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000396432
  ensembl transcript: ENST00000457641
  gene symbol: C7orf43
  hgvsc: ENST00000457641.1:c.275C>A
  hgvsp: ENSP00000396432.1:p.Pro92His
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146826
  ensembl transcript: ENST00000498638
  gene symbol: C7orf43
  hgvsc: ENST00000498638.1:n.347C>A
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000399397
  ensembl transcript: ENST00000419037
  gene symbol: C7orf43
  hgvsc: ENST00000419037.1:c.*436+90C>A
  variant of: http://identifiers.org/hgnc/25604
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2490
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8372
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1584
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20008
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3314
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2396
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20056
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 943
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3369
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3955
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 29861
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro361His
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

7-99754169-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99754169
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99754169
    reference: chr 7
allele count: 3
allele frequency: 2.495217499792065e-5
allele num: 120230
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000406326
  ensembl transcript: ENST00000419841
  gene symbol: C7orf43
  hgvsc: ENST00000419841.1:c.384G>A
  hgvsp: ENST00000419841.1:c.384G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000324741
  ensembl transcript: ENST00000316937
  gene symbol: C7orf43
  hgvsc: ENST00000316937.3:c.1080G>A
  hgvsp: ENST00000316937.3:c.1080G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000389672
  ensembl transcript: ENST00000456769
  gene symbol: C7orf43
  hgvsc: ENST00000456769.1:c.796G>A
  hgvsp: ENST00000456769.1:c.796G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000396432
  ensembl transcript: ENST00000457641
  gene symbol: C7orf43
  hgvsc: ENST00000457641.1:c.273G>A
  hgvsp: ENST00000457641.1:c.273G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146826
  ensembl transcript: ENST00000498638
  gene symbol: C7orf43
  hgvsc: ENST00000498638.1:n.345G>A
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000400075
  ensembl transcript: ENST00000448720
  gene symbol: C7orf43
  hgvsc: ENST00000448720.1:c.281G>A
  hgvsp: ENST00000448720.1:c.281G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000399397
  ensembl transcript: ENST00000419037
  gene symbol: C7orf43
  hgvsc: ENST00000419037.1:c.*436+88G>A
  variant of: http://identifiers.org/hgnc/25604
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1585
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2462
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8376
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19926
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19992
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3320
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2551
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3345
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1061
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3366
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1821
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu360Leu
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: MQ

7-99754172-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99754172
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99754172
    reference: chr 7
allele count: 1
allele frequency: 8.32126749546491e-6
allele num: 120174
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000406326
  ensembl transcript: ENST00000419841
  gene symbol: C7orf43
  hgvsc: ENST00000419841.1:c.381C>G
  hgvsp: ENST00000419841.1:c.381C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000389672
  ensembl transcript: ENST00000456769
  gene symbol: C7orf43
  hgvsc: ENST00000456769.1:c.793C>G
  hgvsp: ENST00000456769.1:c.793C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000396432
  ensembl transcript: ENST00000457641
  gene symbol: C7orf43
  hgvsc: ENST00000457641.1:c.270C>G
  hgvsp: ENST00000457641.1:c.270C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000399397
  ensembl transcript: ENST00000419037
  gene symbol: C7orf43
  hgvsc: ENST00000419037.1:c.*436+85C>G
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000400075
  ensembl transcript: ENST00000448720
  gene symbol: C7orf43
  hgvsc: ENST00000448720.1:c.278C>G
  hgvsp: ENST00000448720.1:c.278C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000146826
  ensembl transcript: ENST00000498638
  gene symbol: C7orf43
  hgvsc: ENST00000498638.1:n.342C>G
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000324741
  ensembl transcript: ENST00000316937
  gene symbol: C7orf43
  hgvsc: ENST00000316937.3:c.1077C>G
  hgvsp: ENST00000316937.3:c.1077C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25604
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19596
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19763
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3040
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2643
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8249
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3301
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1055
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 777
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1063
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3953
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1250
  bin: 9.25e1
  variant carriers: 0
hgvs: c.1077C>G
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

7-99754181-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99754181
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99754181
    reference: chr 7
allele count: 1
allele frequency: 8.340700952508049e-6
allele num: 119894
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000400075
  ensembl transcript: ENST00000448720
  gene symbol: C7orf43
  hgvsc: ENST00000448720.1:c.278-9C>T
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000406326
  ensembl transcript: ENST00000419841
  gene symbol: C7orf43
  hgvsc: ENST00000419841.1:c.381-9C>T
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl transcript: ENST00000498638
  gene symbol: C7orf43
  hgvsc: ENST00000498638.1:n.342-9C>T
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000399397
  ensembl transcript: ENST00000419037
  gene symbol: C7orf43
  hgvsc: ENST00000419037.1:c.*436+76C>T
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000324741
  ensembl transcript: ENST00000316937
  gene symbol: C7orf43
  hgvsc: ENST00000316937.3:c.1077-9C>T
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000396432
  ensembl transcript: ENST00000457641
  gene symbol: C7orf43
  hgvsc: ENST00000457641.1:c.270-9C>T
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000389672
  ensembl transcript: ENST00000456769
  gene symbol: C7orf43
  hgvsc: ENST00000456769.1:c.793-9C>T
  variant of: http://identifiers.org/hgnc/25604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3119
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4140
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19373
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18512
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8046
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3296
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1639
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1180
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3291
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 970
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1490
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26740
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1287
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

7-99754183-TGA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99754183
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99754181
    reference: chr 7
allele count: 8
allele frequency: 6.672672071531044e-5
allele num: 119892
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000389672
  ensembl transcript: ENST00000456769
  gene symbol: C7orf43
  hgvsc: ENST00000456769.1:c.793-13_793-12delTC
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000400075
  ensembl transcript: ENST00000448720
  gene symbol: C7orf43
  hgvsc: ENST00000448720.1:c.278-13_278-12delTC
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000399397
  ensembl transcript: ENST00000419037
  gene symbol: C7orf43
  hgvsc: ENST00000419037.1:c.*436+72_*436+73delTC
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000406326
  ensembl transcript: ENST00000419841
  gene symbol: C7orf43
  hgvsc: ENST00000419841.1:c.381-13_381-12delTC
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000396432
  ensembl transcript: ENST00000457641
  gene symbol: C7orf43
  hgvsc: ENST00000457641.1:c.270-13_270-12delTC
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl transcript: ENST00000498638
  gene symbol: C7orf43
  hgvsc: ENST00000498638.1:n.342-13_342-12delTC
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000324741
  ensembl transcript: ENST00000316937
  gene symbol: C7orf43
  hgvsc: ENST00000316937.3:c.1077-13_1077-12delTC
  variant of: http://identifiers.org/hgnc/25604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19495
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18494
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1586
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4081
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3294
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7986
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1494
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1011
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1276
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1624
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1056
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 731
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1247
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
reference allele: TGA
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: MQRankSum

7-99754185-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99754185
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99754185
    reference: chr 7
allele count: 2
allele frequency: 1.668780455243308e-5
allele num: 119848
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000400075
  ensembl transcript: ENST00000448720
  gene symbol: C7orf43
  hgvsc: ENST00000448720.1:c.278-13T>C
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl transcript: ENST00000498638
  gene symbol: C7orf43
  hgvsc: ENST00000498638.1:n.342-13T>C
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000396432
  ensembl transcript: ENST00000457641
  gene symbol: C7orf43
  hgvsc: ENST00000457641.1:c.270-13T>C
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000324741
  ensembl transcript: ENST00000316937
  gene symbol: C7orf43
  hgvsc: ENST00000316937.3:c.1077-13T>C
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000406326
  ensembl transcript: ENST00000419841
  gene symbol: C7orf43
  hgvsc: ENST00000419841.1:c.381-13T>C
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000389672
  ensembl transcript: ENST00000456769
  gene symbol: C7orf43
  hgvsc: ENST00000456769.1:c.793-13T>C
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000399397
  ensembl transcript: ENST00000419037
  gene symbol: C7orf43
  hgvsc: ENST00000419037.1:c.*436+72T>C
  variant of: http://identifiers.org/hgnc/25604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3286
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18335
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4313
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3244
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19313
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7947
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7914
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27316
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1344
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1057
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2526
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

7-99754190-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99754190
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99754190
    reference: chr 7
allele count: 1
allele frequency: 8.358688020328329e-6
allele num: 119636
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000399397
  ensembl transcript: ENST00000419037
  gene symbol: C7orf43
  hgvsc: ENST00000419037.1:c.*436+67C>T
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000396432
  ensembl transcript: ENST00000457641
  gene symbol: C7orf43
  hgvsc: ENST00000457641.1:c.270-18C>T
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl transcript: ENST00000498638
  gene symbol: C7orf43
  hgvsc: ENST00000498638.1:n.342-18C>T
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000406326
  ensembl transcript: ENST00000419841
  gene symbol: C7orf43
  hgvsc: ENST00000419841.1:c.381-18C>T
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000400075
  ensembl transcript: ENST00000448720
  gene symbol: C7orf43
  hgvsc: ENST00000448720.1:c.278-18C>T
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000389672
  ensembl transcript: ENST00000456769
  gene symbol: C7orf43
  hgvsc: ENST00000456769.1:c.793-18C>T
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000324741
  ensembl transcript: ENST00000316937
  gene symbol: C7orf43
  hgvsc: ENST00000316937.3:c.1077-18C>T
  variant of: http://identifiers.org/hgnc/25604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4950
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17888
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18792
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3522
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3287
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7928
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1207
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1051
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2253
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1884
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2796
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1770
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1566
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: ClippingRankSum

7-99754191-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99754191
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99754191
    reference: chr 7
allele count: 1
allele frequency: 8.361763328650746e-6
allele num: 119592
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000400075
  ensembl transcript: ENST00000448720
  gene symbol: C7orf43
  hgvsc: ENST00000448720.1:c.278-19C>T
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000406326
  ensembl transcript: ENST00000419841
  gene symbol: C7orf43
  hgvsc: ENST00000419841.1:c.381-19C>T
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000396432
  ensembl transcript: ENST00000457641
  gene symbol: C7orf43
  hgvsc: ENST00000457641.1:c.270-19C>T
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl transcript: ENST00000498638
  gene symbol: C7orf43
  hgvsc: ENST00000498638.1:n.342-19C>T
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000399397
  ensembl transcript: ENST00000419037
  gene symbol: C7orf43
  hgvsc: ENST00000419037.1:c.*436+66C>T
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000389672
  ensembl transcript: ENST00000456769
  gene symbol: C7orf43
  hgvsc: ENST00000456769.1:c.793-19C>T
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000324741
  ensembl transcript: ENST00000316937
  gene symbol: C7orf43
  hgvsc: ENST00000316937.3:c.1077-19C>T
  variant of: http://identifiers.org/hgnc/25604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7920
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18676
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3570
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17834
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3286
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5064
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1593
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2849
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25806
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3223
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1051
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1788
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum

7-99754196-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99754196
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99754196
    reference: chr 7
allele count: 1
allele frequency: 8.375770570892522e-6
allele num: 119392
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl transcript: ENST00000498638
  gene symbol: C7orf43
  hgvsc: ENST00000498638.1:n.342-24G>A
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000324741
  ensembl transcript: ENST00000316937
  gene symbol: C7orf43
  hgvsc: ENST00000316937.3:c.1077-24G>A
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000406326
  ensembl transcript: ENST00000419841
  gene symbol: C7orf43
  hgvsc: ENST00000419841.1:c.381-24G>A
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000399397
  ensembl transcript: ENST00000419037
  gene symbol: C7orf43
  hgvsc: ENST00000419037.1:c.*436+61G>A
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000396432
  ensembl transcript: ENST00000457641
  gene symbol: C7orf43
  hgvsc: ENST00000457641.1:c.270-24G>A
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000389672
  ensembl transcript: ENST00000456769
  gene symbol: C7orf43
  hgvsc: ENST00000456769.1:c.793-24G>A
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000400075
  ensembl transcript: ENST00000448720
  gene symbol: C7orf43
  hgvsc: ENST00000448720.1:c.278-24G>A
  variant of: http://identifiers.org/hgnc/25604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18352
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7972
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17365
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3294
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3761
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5554
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2067
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1381
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1441
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7562
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2237
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1722
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1243
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1064
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

7-99754200-CTGTG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99754200
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99754196
    reference: chr 7
allele count: 1
allele frequency: 8.398280032249395e-6
allele num: 119072
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl transcript: ENST00000498638
  gene symbol: C7orf43
  hgvsc: ENST00000498638.1:n.342-32_342-29delCACA
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000406326
  ensembl transcript: ENST00000419841
  gene symbol: C7orf43
  hgvsc: ENST00000419841.1:c.381-32_381-29delCACA
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000396432
  ensembl transcript: ENST00000457641
  gene symbol: C7orf43
  hgvsc: ENST00000457641.1:c.270-32_270-29delCACA
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000324741
  ensembl transcript: ENST00000316937
  gene symbol: C7orf43
  hgvsc: ENST00000316937.3:c.1077-32_1077-29delCACA
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000399397
  ensembl transcript: ENST00000419037
  gene symbol: C7orf43
  hgvsc: ENST00000419037.1:c.*436+53_*436+56delCACA
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000389672
  ensembl transcript: ENST00000456769
  gene symbol: C7orf43
  hgvsc: ENST00000456769.1:c.793-32_793-29delCACA
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000400075
  ensembl transcript: ENST00000448720
  gene symbol: C7orf43
  hgvsc: ENST00000448720.1:c.278-32_278-29delCACA
  variant of: http://identifiers.org/hgnc/25604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18120
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3908
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1586
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5856
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3297
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17104
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7925
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2193
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1344
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1802
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3207
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1476
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1243
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1046
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23917
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: CTGTG
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

7-99754202-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99754202
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99754202
    reference: chr 7
allele count: 1
allele frequency: 8.394614015647561e-6
allele num: 119124
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000400075
  ensembl transcript: ENST00000448720
  gene symbol: C7orf43
  hgvsc: ENST00000448720.1:c.278-30C>G
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000406326
  ensembl transcript: ENST00000419841
  gene symbol: C7orf43
  hgvsc: ENST00000419841.1:c.381-30C>G
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000389672
  ensembl transcript: ENST00000456769
  gene symbol: C7orf43
  hgvsc: ENST00000456769.1:c.793-30C>G
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000399397
  ensembl transcript: ENST00000419037
  gene symbol: C7orf43
  hgvsc: ENST00000419037.1:c.*436+55C>G
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000324741
  ensembl transcript: ENST00000316937
  gene symbol: C7orf43
  hgvsc: ENST00000316937.3:c.1077-30C>G
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl transcript: ENST00000498638
  gene symbol: C7orf43
  hgvsc: ENST00000498638.1:n.342-30C>G
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000396432
  ensembl transcript: ENST00000457641
  gene symbol: C7orf43
  hgvsc: ENST00000457641.1:c.270-30C>G
  variant of: http://identifiers.org/hgnc/25604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5897
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16961
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3984
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7880
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3294
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1586
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18163
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1118
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1431
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 803
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3177
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1829
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2192
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1243
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2227
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

7-99754212-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99754212
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99754212
    reference: chr 7
allele count: 1
allele frequency: 8.419209267865562e-6
allele num: 118776
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl transcript: ENST00000498638
  gene symbol: C7orf43
  hgvsc: ENST00000498638.1:n.342-40C>G
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000399397
  ensembl transcript: ENST00000419037
  gene symbol: C7orf43
  hgvsc: ENST00000419037.1:c.*436+45C>G
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000406326
  ensembl transcript: ENST00000419841
  gene symbol: C7orf43
  hgvsc: ENST00000419841.1:c.381-40C>G
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000400075
  ensembl transcript: ENST00000448720
  gene symbol: C7orf43
  hgvsc: ENST00000448720.1:c.278-40C>G
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000396432
  ensembl transcript: ENST00000457641
  gene symbol: C7orf43
  hgvsc: ENST00000457641.1:c.270-40C>G
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000324741
  ensembl transcript: ENST00000316937
  gene symbol: C7orf43
  hgvsc: ENST00000316937.3:c.1077-40C>G
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000389672
  ensembl transcript: ENST00000456769
  gene symbol: C7orf43
  hgvsc: ENST00000456769.1:c.793-40C>G
  variant of: http://identifiers.org/hgnc/25604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16515
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7934
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16929
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3315
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6884
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4462
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3711
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2678
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1403
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2120
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1054
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2276
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2135
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3227
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum

7-99754223-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99754223
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99754223
    reference: chr 7
allele count: 2
allele frequency: 1.693336720006773e-5
allele num: 118110
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000406326
  ensembl transcript: ENST00000419841
  gene symbol: C7orf43
  hgvsc: ENST00000419841.1:c.380+34G>A
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000396432
  ensembl transcript: ENST00000457641
  gene symbol: C7orf43
  hgvsc: ENST00000457641.1:c.269+34G>A
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl transcript: ENST00000498638
  gene symbol: C7orf43
  hgvsc: ENST00000498638.1:n.341+34G>A
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000400075
  ensembl transcript: ENST00000448720
  gene symbol: C7orf43
  hgvsc: ENST00000448720.1:c.277+34G>A
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000389672
  ensembl transcript: ENST00000456769
  gene symbol: C7orf43
  hgvsc: ENST00000456769.1:c.792+34G>A
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000399397
  ensembl transcript: ENST00000419037
  gene symbol: C7orf43
  hgvsc: ENST00000419037.1:c.*436+34G>A
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000324741
  ensembl transcript: ENST00000316937
  gene symbol: C7orf43
  hgvsc: ENST00000316937.3:c.1076+34G>A
  variant of: http://identifiers.org/hgnc/25604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16498
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4486
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8058
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16736
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1626
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3338
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6723
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1076
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2573
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1268
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2116
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2270
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1595
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1386
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2349
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

7-99754224-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99754224
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99754224
    reference: chr 7
allele count: 1
allele frequency: 8.449942540390725e-6
allele num: 118344
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000324741
  ensembl transcript: ENST00000316937
  gene symbol: C7orf43
  hgvsc: ENST00000316937.3:c.1076+33C>T
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000406326
  ensembl transcript: ENST00000419841
  gene symbol: C7orf43
  hgvsc: ENST00000419841.1:c.380+33C>T
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000389672
  ensembl transcript: ENST00000456769
  gene symbol: C7orf43
  hgvsc: ENST00000456769.1:c.792+33C>T
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl transcript: ENST00000498638
  gene symbol: C7orf43
  hgvsc: ENST00000498638.1:n.341+33C>T
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000399397
  ensembl transcript: ENST00000419037
  gene symbol: C7orf43
  hgvsc: ENST00000419037.1:c.*436+33C>T
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000400075
  ensembl transcript: ENST00000448720
  gene symbol: C7orf43
  hgvsc: ENST00000448720.1:c.277+33C>T
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000396432
  ensembl transcript: ENST00000457641
  gene symbol: C7orf43
  hgvsc: ENST00000457641.1:c.269+33C>T
  variant of: http://identifiers.org/hgnc/25604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3354
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6480
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4458
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16844
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16551
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8133
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3704
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1718
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2633
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2049
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2389
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3395
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

7-99754227-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99754227
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99754227
    reference: chr 7
allele count: 1
allele frequency: 8.456802652053312e-6
allele num: 118248
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000399397
  ensembl transcript: ENST00000419037
  gene symbol: C7orf43
  hgvsc: ENST00000419037.1:c.*436+30G>C
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000396432
  ensembl transcript: ENST00000457641
  gene symbol: C7orf43
  hgvsc: ENST00000457641.1:c.269+30G>C
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000324741
  ensembl transcript: ENST00000316937
  gene symbol: C7orf43
  hgvsc: ENST00000316937.3:c.1076+30G>C
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl transcript: ENST00000498638
  gene symbol: C7orf43
  hgvsc: ENST00000498638.1:n.341+30G>C
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000389672
  ensembl transcript: ENST00000456769
  gene symbol: C7orf43
  hgvsc: ENST00000456769.1:c.792+30G>C
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000406326
  ensembl transcript: ENST00000419841
  gene symbol: C7orf43
  hgvsc: ENST00000419841.1:c.380+30G>C
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000400075
  ensembl transcript: ENST00000448720
  gene symbol: C7orf43
  hgvsc: ENST00000448720.1:c.277+30G>C
  variant of: http://identifiers.org/hgnc/25604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16518
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6160
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17200
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8139
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3360
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4421
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2419
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3613
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1984
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1095
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3974
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 913
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3474
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1184
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD

7-99754227-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99754227
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99754227
    reference: chr 7
allele count: 4
allele frequency: 3.382721060821325e-5
allele num: 118248
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000399397
  ensembl transcript: ENST00000419037
  gene symbol: C7orf43
  hgvsc: ENST00000419037.1:c.*436+30G>A
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000389672
  ensembl transcript: ENST00000456769
  gene symbol: C7orf43
  hgvsc: ENST00000456769.1:c.792+30G>A
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000396432
  ensembl transcript: ENST00000457641
  gene symbol: C7orf43
  hgvsc: ENST00000457641.1:c.269+30G>A
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000400075
  ensembl transcript: ENST00000448720
  gene symbol: C7orf43
  hgvsc: ENST00000448720.1:c.277+30G>A
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000406326
  ensembl transcript: ENST00000419841
  gene symbol: C7orf43
  hgvsc: ENST00000419841.1:c.380+30G>A
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000324741
  ensembl transcript: ENST00000316937
  gene symbol: C7orf43
  hgvsc: ENST00000316937.3:c.1076+30G>A
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl transcript: ENST00000498638
  gene symbol: C7orf43
  hgvsc: ENST00000498638.1:n.341+30G>A
  variant of: http://identifiers.org/hgnc/25604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6160
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16518
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4421
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17200
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8139
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3360
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2419
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1095
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1184
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7293
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2285
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1286
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum

7-99754228-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99754228
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99754228
    reference: chr 7
allele count: 20
allele frequency: 1.690159889125511e-4
allele num: 118332
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000396432
  ensembl transcript: ENST00000457641
  gene symbol: C7orf43
  hgvsc: ENST00000457641.1:c.269+29C>T
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl transcript: ENST00000498638
  gene symbol: C7orf43
  hgvsc: ENST00000498638.1:n.341+29C>T
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000266154
  ensembl transcript: ENST00000584344
  gene symbol: MIR4658
  hgvsc: ENST00000584344.1:n.65C>T
  variant of: http://identifiers.org/hgnc/41673
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000324741
  ensembl transcript: ENST00000316937
  gene symbol: C7orf43
  hgvsc: ENST00000316937.3:c.1076+29C>T
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000389672
  ensembl transcript: ENST00000456769
  gene symbol: C7orf43
  hgvsc: ENST00000456769.1:c.792+29C>T
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000399397
  ensembl transcript: ENST00000419037
  gene symbol: C7orf43
  hgvsc: ENST00000419037.1:c.*436+29C>T
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000406326
  ensembl transcript: ENST00000419841
  gene symbol: C7orf43
  hgvsc: ENST00000419841.1:c.380+29C>T
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000400075
  ensembl transcript: ENST00000448720
  gene symbol: C7orf43
  hgvsc: ENST00000448720.1:c.277+29C>T
  variant of: http://identifiers.org/hgnc/25604
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3369
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5896
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8158
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16598
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4387
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17362
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1469
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1113
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1941
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3538
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2451
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2194
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

7-99754229-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99754229
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99754229
    reference: chr 7
allele count: 5
allele frequency: 4.223329673114283e-5
allele num: 118390
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000399397
  ensembl transcript: ENST00000419037
  gene symbol: C7orf43
  hgvsc: ENST00000419037.1:c.*436+28G>C
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000400075
  ensembl transcript: ENST00000448720
  gene symbol: C7orf43
  hgvsc: ENST00000448720.1:c.277+28G>C
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl transcript: ENST00000498638
  gene symbol: C7orf43
  hgvsc: ENST00000498638.1:n.341+28G>C
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000266154
  ensembl transcript: ENST00000584344
  gene symbol: MIR4658
  hgvsc: ENST00000584344.1:n.64G>C
  variant of: http://identifiers.org/hgnc/41673
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000406326
  ensembl transcript: ENST00000419841
  gene symbol: C7orf43
  hgvsc: ENST00000419841.1:c.380+28G>C
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000396432
  ensembl transcript: ENST00000457641
  gene symbol: C7orf43
  hgvsc: ENST00000457641.1:c.269+28G>C
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000389672
  ensembl transcript: ENST00000456769
  gene symbol: C7orf43
  hgvsc: ENST00000456769.1:c.792+28G>C
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000324741
  ensembl transcript: ENST00000316937
  gene symbol: C7orf43
  hgvsc: ENST00000316937.3:c.1076+28G>C
  variant of: http://identifiers.org/hgnc/25604
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5765
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17492
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1637
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8185
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4355
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16596
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3369
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3387
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1298
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2127
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23011
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1920
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2392
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ

7-99754232-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99754232
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99754232
    reference: chr 7
allele count: 1
allele frequency: 8.460093737838614e-6
allele num: 118202
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000266154
  ensembl transcript: ENST00000584344
  gene symbol: MIR4658
  hgvsc: ENST00000584344.1:n.61G>A
  variant of: http://identifiers.org/hgnc/41673
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000389672
  ensembl transcript: ENST00000456769
  gene symbol: C7orf43
  hgvsc: ENST00000456769.1:c.792+25G>A
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl transcript: ENST00000498638
  gene symbol: C7orf43
  hgvsc: ENST00000498638.1:n.341+25G>A
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000406326
  ensembl transcript: ENST00000419841
  gene symbol: C7orf43
  hgvsc: ENST00000419841.1:c.380+25G>A
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000396432
  ensembl transcript: ENST00000457641
  gene symbol: C7orf43
  hgvsc: ENST00000457641.1:c.269+25G>A
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000399397
  ensembl transcript: ENST00000419037
  gene symbol: C7orf43
  hgvsc: ENST00000419037.1:c.*436+25G>A
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000324741
  ensembl transcript: ENST00000316937
  gene symbol: C7orf43
  hgvsc: ENST00000316937.3:c.1076+25G>A
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000400075
  ensembl transcript: ENST00000448720
  gene symbol: C7orf43
  hgvsc: ENST00000448720.1:c.277+25G>A
  variant of: http://identifiers.org/hgnc/25604
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4207
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17931
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5218
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3385
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8341
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16672
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1639
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 881
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 954
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3445
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3462
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

7-99754233-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99754233
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99754233
    reference: chr 7
allele count: 3
allele frequency: 2.533783783783784e-5
allele num: 118400
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000324741
  ensembl transcript: ENST00000316937
  gene symbol: C7orf43
  hgvsc: ENST00000316937.3:c.1076+24C>T
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000266154
  ensembl transcript: ENST00000584344
  gene symbol: MIR4658
  hgvsc: ENST00000584344.1:n.60C>T
  variant of: http://identifiers.org/hgnc/41673
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000389672
  ensembl transcript: ENST00000456769
  gene symbol: C7orf43
  hgvsc: ENST00000456769.1:c.792+24C>T
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000400075
  ensembl transcript: ENST00000448720
  gene symbol: C7orf43
  hgvsc: ENST00000448720.1:c.277+24C>T
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000406326
  ensembl transcript: ENST00000419841
  gene symbol: C7orf43
  hgvsc: ENST00000419841.1:c.380+24C>T
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl transcript: ENST00000498638
  gene symbol: C7orf43
  hgvsc: ENST00000498638.1:n.341+24C>T
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000399397
  ensembl transcript: ENST00000419037
  gene symbol: C7orf43
  hgvsc: ENST00000419037.1:c.*436+24C>T
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000396432
  ensembl transcript: ENST00000457641
  gene symbol: C7orf43
  hgvsc: ENST00000457641.1:c.269+24C>T
  variant of: http://identifiers.org/hgnc/25604
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16651
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5014
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8419
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18087
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3392
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4170
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1126
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3434
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1802
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3488
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2166
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

7-99754246-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99754246
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99754246
    reference: chr 7
allele count: 2
allele frequency: 1.687820685930327e-5
allele num: 118496
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000400075
  ensembl transcript: ENST00000448720
  gene symbol: C7orf43
  hgvsc: ENST00000448720.1:c.277+11A>G
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000396432
  ensembl transcript: ENST00000457641
  gene symbol: C7orf43
  hgvsc: ENST00000457641.1:c.269+11A>G
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000406326
  ensembl transcript: ENST00000419841
  gene symbol: C7orf43
  hgvsc: ENST00000419841.1:c.380+11A>G
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl transcript: ENST00000498638
  gene symbol: C7orf43
  hgvsc: ENST00000498638.1:n.341+11A>G
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000399397
  ensembl transcript: ENST00000419037
  gene symbol: C7orf43
  hgvsc: ENST00000419037.1:c.*436+11A>G
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: true
  consequence: mature_miRNA_variant
  ensembl gene: ENSG00000266154
  ensembl transcript: ENST00000584344
  gene symbol: MIR4658
  hgvsc: ENST00000584344.1:n.47A>G
  variant of: http://identifiers.org/hgnc/41673
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000324741
  ensembl transcript: ENST00000316937
  gene symbol: C7orf43
  hgvsc: ENST00000316937.3:c.1076+11A>G
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000389672
  ensembl transcript: ENST00000456769
  gene symbol: C7orf43
  hgvsc: ENST00000456769.1:c.792+11A>G
  variant of: http://identifiers.org/hgnc/25604
canonical: true
consequence: mature miRNA
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3339
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3552
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19383
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1653
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3450
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17202
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8755
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4010
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25836
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 606
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1207
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3718
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: East Asian
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD

7-99754250-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99754250
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99754250
    reference: chr 7
allele count: 1
allele frequency: 8.443806467955754e-6
allele num: 118430
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl transcript: ENST00000498638
  gene symbol: C7orf43
  hgvsc: ENST00000498638.1:n.341+7G>A
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: true
  consequence: mature_miRNA_variant
  ensembl gene: ENSG00000266154
  ensembl transcript: ENST00000584344
  gene symbol: MIR4658
  hgvsc: ENST00000584344.1:n.43G>A
  variant of: http://identifiers.org/hgnc/41673
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000324741
  ensembl transcript: ENST00000316937
  gene symbol: C7orf43
  hgvsc: ENST00000316937.3:c.1076+7G>A
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000406326
  ensembl transcript: ENST00000419841
  gene symbol: C7orf43
  hgvsc: ENST00000419841.1:c.380+7G>A
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000396432
  ensembl transcript: ENST00000457641
  gene symbol: C7orf43
  hgvsc: ENST00000457641.1:c.269+7G>A
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000399397
  ensembl transcript: ENST00000419037
  gene symbol: C7orf43
  hgvsc: ENST00000419037.1:c.*436+7G>A
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000400075
  ensembl transcript: ENST00000448720
  gene symbol: C7orf43
  hgvsc: ENST00000448720.1:c.277+7G>A
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000389672
  ensembl transcript: ENST00000456769
  gene symbol: C7orf43
  hgvsc: ENST00000456769.1:c.792+7G>A
  variant of: http://identifiers.org/hgnc/25604
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8927
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3473
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17405
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3006
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19515
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3361
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1660
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3768
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4088
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2901
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1097
  bin: 3.75e1
  variant carriers: 0
hgvs: c.1076+7G>A
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP

7-99754259-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99754259
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99754259
    reference: chr 7
allele count: 5
allele frequency: 4.216491541717967e-5
allele num: 118582
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000266154
  ensembl transcript: ENST00000584344
  gene symbol: MIR4658
  hgvsc: ENST00000584344.1:n.34C>T
  variant of: http://identifiers.org/hgnc/41673
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000396432
  ensembl transcript: ENST00000457641
  gene symbol: C7orf43
  hgvsc: ENST00000457641.1:c.267C>T
  hgvsp: ENST00000457641.1:c.267C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000146826
  ensembl transcript: ENST00000498638
  gene symbol: C7orf43
  hgvsc: ENST00000498638.1:n.339C>T
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000406326
  ensembl transcript: ENST00000419841
  gene symbol: C7orf43
  hgvsc: ENST00000419841.1:c.378C>T
  hgvsp: ENST00000419841.1:c.378C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000400075
  ensembl transcript: ENST00000448720
  gene symbol: C7orf43
  hgvsc: ENST00000448720.1:c.275C>T
  hgvsp: ENST00000448720.1:c.275C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000324741
  ensembl transcript: ENST00000316937
  gene symbol: C7orf43
  hgvsc: ENST00000316937.3:c.1074C>T
  hgvsp: ENST00000316937.3:c.1074C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000399397
  ensembl transcript: ENST00000419037
  gene symbol: C7orf43
  hgvsc: ENST00000419037.1:c.*434C>T
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000389672
  ensembl transcript: ENST00000456769
  gene symbol: C7orf43
  hgvsc: ENST00000456769.1:c.790C>T
  hgvsp: ENST00000456769.1:c.790C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25604
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19593
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2949
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3541
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9329
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2298
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17954
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4088
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1080
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1297
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 5.25e1
  variant carriers: 0
hgvs: c.1074C>T
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP

7-99754265-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99754265
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99754265
    reference: chr 7
allele count: 1
allele frequency: 8.428576244900712e-6
allele num: 118644
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000266154
  ensembl transcript: ENST00000584344
  gene symbol: MIR4658
  hgvsc: ENST00000584344.1:n.28C>T
  variant of: http://identifiers.org/hgnc/41673
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000400075
  ensembl transcript: ENST00000448720
  gene symbol: C7orf43
  hgvsc: ENST00000448720.1:c.269C>T
  hgvsp: ENST00000448720.1:c.269C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000396432
  ensembl transcript: ENST00000457641
  gene symbol: C7orf43
  hgvsc: ENST00000457641.1:c.261C>T
  hgvsp: ENST00000457641.1:c.261C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000389672
  ensembl transcript: ENST00000456769
  gene symbol: C7orf43
  hgvsc: ENST00000456769.1:c.784C>T
  hgvsp: ENST00000456769.1:c.784C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000324741
  ensembl transcript: ENST00000316937
  gene symbol: C7orf43
  hgvsc: ENST00000316937.3:c.1068C>T
  hgvsp: ENST00000316937.3:c.1068C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146826
  ensembl transcript: ENST00000498638
  gene symbol: C7orf43
  hgvsc: ENST00000498638.1:n.333C>T
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000399397
  ensembl transcript: ENST00000419037
  gene symbol: C7orf43
  hgvsc: ENST00000419037.1:c.*428C>T
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000406326
  ensembl transcript: ENST00000419841
  gene symbol: C7orf43
  hgvsc: ENST00000419841.1:c.372C>T
  hgvsp: ENST00000419841.1:c.372C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25604
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1823
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3568
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20008
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1699
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9459
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18179
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2643
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2991
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 722
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3996
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 914
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Thr356Thr
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD

7-99754267-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99754267
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99754267
    reference: chr 7
allele count: 1
allele frequency: 8.425309630128907e-6
allele num: 118690
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000389672
  ensembl transcript: ENST00000456769
  gene symbol: C7orf43
  hgvsc: ENST00000456769.1:c.782A>G
  hgvsp: ENSP00000389672.1:p.Thr262Ala
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146826
  ensembl transcript: ENST00000498638
  gene symbol: C7orf43
  hgvsc: ENST00000498638.1:n.331A>G
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000396432
  ensembl transcript: ENST00000457641
  gene symbol: C7orf43
  hgvsc: ENST00000457641.1:c.259A>G
  hgvsp: ENSP00000396432.1:p.Thr87Ala
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000266154
  ensembl transcript: ENST00000584344
  gene symbol: MIR4658
  hgvsc: ENST00000584344.1:n.26A>G
  variant of: http://identifiers.org/hgnc/41673
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000324741
  ensembl transcript: ENST00000316937
  gene symbol: C7orf43
  hgvsc: ENST00000316937.3:c.1066A>G
  hgvsp: ENSP00000324741.3:p.Thr356Ala
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000406326
  ensembl transcript: ENST00000419841
  gene symbol: C7orf43
  hgvsc: ENST00000419841.1:c.370A>G
  hgvsp: ENSP00000406326.1:p.Thr124Ala
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000400075
  ensembl transcript: ENST00000448720
  gene symbol: C7orf43
  hgvsc: ENST00000448720.1:c.267A>G
  hgvsp: ENSP00000400075.1:p.Thr90Ala
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000399397
  ensembl transcript: ENST00000419037
  gene symbol: C7orf43
  hgvsc: ENST00000419037.1:c.*426A>G
  variant of: http://identifiers.org/hgnc/25604
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1698
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3576
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9517
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1653
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18248
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2557
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20141
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8605
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4020
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4099
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr356Ala
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: Latino
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum

7-99754268-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99754268
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99754268
    reference: chr 7
allele count: 3
allele frequency: 2.527805864509606e-5
allele num: 118680
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000406326
  ensembl transcript: ENST00000419841
  gene symbol: C7orf43
  hgvsc: ENST00000419841.1:c.369C>T
  hgvsp: ENST00000419841.1:c.369C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000324741
  ensembl transcript: ENST00000316937
  gene symbol: C7orf43
  hgvsc: ENST00000316937.3:c.1065C>T
  hgvsp: ENST00000316937.3:c.1065C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000389672
  ensembl transcript: ENST00000456769
  gene symbol: C7orf43
  hgvsc: ENST00000456769.1:c.781C>T
  hgvsp: ENST00000456769.1:c.781C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000400075
  ensembl transcript: ENST00000448720
  gene symbol: C7orf43
  hgvsc: ENST00000448720.1:c.266C>T
  hgvsp: ENST00000448720.1:c.266C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000399397
  ensembl transcript: ENST00000419037
  gene symbol: C7orf43
  hgvsc: ENST00000419037.1:c.*425C>T
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000266154
  ensembl transcript: ENST00000584344
  gene symbol: MIR4658
  hgvsc: ENST00000584344.1:n.25C>T
  variant of: http://identifiers.org/hgnc/41673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146826
  ensembl transcript: ENST00000498638
  gene symbol: C7orf43
  hgvsc: ENST00000498638.1:n.330C>T
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000396432
  ensembl transcript: ENST00000457641
  gene symbol: C7orf43
  hgvsc: ENST00000457641.1:c.258C>T
  hgvsp: ENST00000457641.1:c.258C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25604
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20170
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2498
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18301
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9555
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3580
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 858
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4451
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2420
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Tyr355Tyr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ

7-99754273-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99754273
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99754273
    reference: chr 7
allele count: 1
allele frequency: 8.419776370739593e-6
allele num: 118768
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000399397
  ensembl transcript: ENST00000419037
  gene symbol: C7orf43
  hgvsc: ENST00000419037.1:c.*420A>G
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000389672
  ensembl transcript: ENST00000456769
  gene symbol: C7orf43
  hgvsc: ENST00000456769.1:c.776A>G
  hgvsp: ENSP00000389672.1:p.Ile260Val
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000400075
  ensembl transcript: ENST00000448720
  gene symbol: C7orf43
  hgvsc: ENST00000448720.1:c.261A>G
  hgvsp: ENSP00000400075.1:p.Ile88Val
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000324741
  ensembl transcript: ENST00000316937
  gene symbol: C7orf43
  hgvsc: ENST00000316937.3:c.1060A>G
  hgvsp: ENSP00000324741.3:p.Ile354Val
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000406326
  ensembl transcript: ENST00000419841
  gene symbol: C7orf43
  hgvsc: ENST00000419841.1:c.364A>G
  hgvsp: ENSP00000406326.1:p.Ile122Val
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000396432
  ensembl transcript: ENST00000457641
  gene symbol: C7orf43
  hgvsc: ENST00000457641.1:c.253A>G
  hgvsp: ENSP00000396432.1:p.Ile85Val
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146826
  ensembl transcript: ENST00000498638
  gene symbol: C7orf43
  hgvsc: ENST00000498638.1:n.325A>G
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000266154
  ensembl transcript: ENST00000584344
  gene symbol: MIR4658
  hgvsc: ENST00000584344.1:n.20A>G
  variant of: http://identifiers.org/hgnc/41673
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1705
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18424
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9645
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20428
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3588
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2302
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2312
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3055
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4486
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ile354Val
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ

7-99754278-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99754278
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99754278
    reference: chr 7
allele count: 1
allele frequency: 8.417508417508417e-6
allele num: 118800
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000406326
  ensembl transcript: ENST00000419841
  gene symbol: C7orf43
  hgvsc: ENST00000419841.1:c.359A>G
  hgvsp: ENSP00000406326.1:p.Gln120Arg
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000396432
  ensembl transcript: ENST00000457641
  gene symbol: C7orf43
  hgvsc: ENST00000457641.1:c.248A>G
  hgvsp: ENSP00000396432.1:p.Gln83Arg
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000400075
  ensembl transcript: ENST00000448720
  gene symbol: C7orf43
  hgvsc: ENST00000448720.1:c.256A>G
  hgvsp: ENSP00000400075.1:p.Gln86Arg
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000389672
  ensembl transcript: ENST00000456769
  gene symbol: C7orf43
  hgvsc: ENST00000456769.1:c.771A>G
  hgvsp: ENSP00000389672.1:p.Gln258Arg
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000266154
  ensembl transcript: ENST00000584344
  gene symbol: MIR4658
  hgvsc: ENST00000584344.1:n.15A>G
  variant of: http://identifiers.org/hgnc/41673
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000324741
  ensembl transcript: ENST00000316937
  gene symbol: C7orf43
  hgvsc: ENST00000316937.3:c.1055A>G
  hgvsp: ENSP00000324741.3:p.Gln352Arg
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000399397
  ensembl transcript: ENST00000419037
  gene symbol: C7orf43
  hgvsc: ENST00000419037.1:c.*415A>G
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146826
  ensembl transcript: ENST00000498638
  gene symbol: C7orf43
  hgvsc: ENST00000498638.1:n.320A>G
  variant of: http://identifiers.org/hgnc/25604
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3604
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9757
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20650
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18599
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2072
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gln352Arg
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum

7-99754281-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99754281
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99754281
    reference: chr 7
allele count: 1
allele frequency: 8.416799932665601e-6
allele num: 118810
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000266154
  ensembl transcript: ENST00000584344
  gene symbol: MIR4658
  hgvsc: ENST00000584344.1:n.12C>T
  variant of: http://identifiers.org/hgnc/41673
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000324741
  ensembl transcript: ENST00000316937
  gene symbol: C7orf43
  hgvsc: ENST00000316937.3:c.1052C>T
  hgvsp: ENSP00000324741.3:p.Thr351Ile
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146826
  ensembl transcript: ENST00000498638
  gene symbol: C7orf43
  hgvsc: ENST00000498638.1:n.317C>T
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000406326
  ensembl transcript: ENST00000419841
  gene symbol: C7orf43
  hgvsc: ENST00000419841.1:c.356C>T
  hgvsp: ENSP00000406326.1:p.Thr119Ile
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000396432
  ensembl transcript: ENST00000457641
  gene symbol: C7orf43
  hgvsc: ENST00000457641.1:c.245C>T
  hgvsp: ENSP00000396432.1:p.Thr82Ile
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000399397
  ensembl transcript: ENST00000419037
  gene symbol: C7orf43
  hgvsc: ENST00000419037.1:c.*412C>T
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000389672
  ensembl transcript: ENST00000456769
  gene symbol: C7orf43
  hgvsc: ENST00000456769.1:c.768C>T
  hgvsp: ENSP00000389672.1:p.Thr257Ile
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000400075
  ensembl transcript: ENST00000448720
  gene symbol: C7orf43
  hgvsc: ENST00000448720.1:c.253C>T
  hgvsp: ENSP00000400075.1:p.Thr85Ile
  variant of: http://identifiers.org/hgnc/25604
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20587
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9806
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18689
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3619
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27904
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4566
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1499
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Thr351Ile
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD

7-99754297-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99754297
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99754297
    reference: chr 7
allele count: 1
allele frequency: 8.417366710998132e-6
allele num: 118802
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000389672
  ensembl transcript: ENST00000456769
  gene symbol: C7orf43
  hgvsc: ENST00000456769.1:c.752C>A
  hgvsp: ENSP00000389672.1:p.Pro252Thr
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146826
  ensembl transcript: ENST00000498638
  gene symbol: C7orf43
  hgvsc: ENST00000498638.1:n.301C>A
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000400075
  ensembl transcript: ENST00000448720
  gene symbol: C7orf43
  hgvsc: ENST00000448720.1:c.237C>A
  hgvsp: ENSP00000400075.1:p.Pro80Thr
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000324741
  ensembl transcript: ENST00000316937
  gene symbol: C7orf43
  hgvsc: ENST00000316937.3:c.1036C>A
  hgvsp: ENSP00000324741.3:p.Pro346Thr
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000406326
  ensembl transcript: ENST00000419841
  gene symbol: C7orf43
  hgvsc: ENST00000419841.1:c.340C>A
  hgvsp: ENSP00000406326.1:p.Pro114Thr
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000396432
  ensembl transcript: ENST00000457641
  gene symbol: C7orf43
  hgvsc: ENST00000457641.1:c.229C>A
  hgvsp: ENSP00000396432.1:p.Pro77Thr
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000399397
  ensembl transcript: ENST00000419037
  gene symbol: C7orf43
  hgvsc: ENST00000419037.1:c.*396C>A
  variant of: http://identifiers.org/hgnc/25604
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1734
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19086
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20380
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10042
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1764
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3666
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4147
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9041
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4649
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3167
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4242
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro346Thr
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

7-99754318-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99754318
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99754318
    reference: chr 7
allele count: 1
allele frequency: 8.435117079425063e-6
allele num: 118552
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000324741
  ensembl transcript: ENST00000316937
  gene symbol: C7orf43
  hgvsc: ENST00000316937.3:c.1015G>A
  hgvsp: ENSP00000324741.3:p.Ala339Thr
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000389672
  ensembl transcript: ENST00000456769
  gene symbol: C7orf43
  hgvsc: ENST00000456769.1:c.731G>A
  hgvsp: ENSP00000389672.1:p.Ala245Thr
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000399397
  ensembl transcript: ENST00000419037
  gene symbol: C7orf43
  hgvsc: ENST00000419037.1:c.*375G>A
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000406326
  ensembl transcript: ENST00000419841
  gene symbol: C7orf43
  hgvsc: ENST00000419841.1:c.319G>A
  hgvsp: ENSP00000406326.1:p.Ala107Thr
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146826
  ensembl transcript: ENST00000498638
  gene symbol: C7orf43
  hgvsc: ENST00000498638.1:n.280G>A
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000400075
  ensembl transcript: ENST00000448720
  gene symbol: C7orf43
  hgvsc: ENST00000448720.1:c.216G>A
  hgvsp: ENSP00000400075.1:p.Ala73Thr
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000396432
  ensembl transcript: ENST00000457641
  gene symbol: C7orf43
  hgvsc: ENST00000457641.1:c.208G>A
  hgvsp: ENSP00000396432.1:p.Ala70Thr
  variant of: http://identifiers.org/hgnc/25604
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2062
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19297
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19392
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3701
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10256
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9125
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3239
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27351
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala339Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP

7-99754320-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99754320
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99754320
    reference: chr 7
allele count: 3
allele frequency: 2.530321688230631e-5
allele num: 118562
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000406326
  ensembl transcript: ENST00000419841
  gene symbol: C7orf43
  hgvsc: ENST00000419841.1:c.317T>C
  hgvsp: ENSP00000406326.1:p.Ile106Thr
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000400075
  ensembl transcript: ENST00000448720
  gene symbol: C7orf43
  hgvsc: ENST00000448720.1:c.214T>C
  hgvsp: ENSP00000400075.1:p.Ile72Thr
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000324741
  ensembl transcript: ENST00000316937
  gene symbol: C7orf43
  hgvsc: ENST00000316937.3:c.1013T>C
  hgvsp: ENSP00000324741.3:p.Ile338Thr
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000389672
  ensembl transcript: ENST00000456769
  gene symbol: C7orf43
  hgvsc: ENST00000456769.1:c.729T>C
  hgvsp: ENSP00000389672.1:p.Ile244Thr
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000396432
  ensembl transcript: ENST00000457641
  gene symbol: C7orf43
  hgvsc: ENST00000457641.1:c.206T>C
  hgvsp: ENSP00000396432.1:p.Ile69Thr
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146826
  ensembl transcript: ENST00000498638
  gene symbol: C7orf43
  hgvsc: ENST00000498638.1:n.278T>C
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000399397
  ensembl transcript: ENST00000419037
  gene symbol: C7orf43
  hgvsc: ENST00000419037.1:c.*373T>C
  variant of: http://identifiers.org/hgnc/25604
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1757
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3698
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10248
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19324
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19296
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2433
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1543
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3243
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ile338Thr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

7-99754321-T-TTCTTTTGTGCATGTTGTAGATAACAACAGCTAATA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99754321
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99754356
    reference: chr 7
allele count: 1
allele frequency: 8.437536914224e-6
allele num: 118518
alternate allele: TTCTTTTGTGCATGTTGTAGATAACAACAGCTAATA
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000400075
  ensembl transcript: ENST00000448720
  gene symbol: C7orf43
  hgvsp: ENSP00000400075.1:p.Ile72TyrfsTer2
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146826
  ensembl transcript: ENST00000498638
  gene symbol: C7orf43
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000399397
  ensembl transcript: ENST00000419037
  gene symbol: C7orf43
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: stop_gained
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000396432
  ensembl transcript: ENST00000457641
  gene symbol: C7orf43
  hgvsp: ENSP00000396432.1:p.Ile69TyrfsTer2
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: stop_gained
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000389672
  ensembl transcript: ENST00000456769
  gene symbol: C7orf43
  hgvsp: ENSP00000389672.1:p.Ile244TyrfsTer2
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: stop_gained
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000406326
  ensembl transcript: ENST00000419841
  gene symbol: C7orf43
  hgvsp: ENSP00000406326.1:p.Ile106TyrfsTer2
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  consequence: stop_gained
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000324741
  ensembl transcript: ENST00000316937
  gene symbol: C7orf43
  hgvsp: ENSP00000324741.3:p.Ile338TyrfsTer2
  variant of: http://identifiers.org/hgnc/25604
canonical: true
consequence: stop gained
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19283
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19201
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10255
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3701
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2158
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1758
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3240
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4747
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9136
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4316
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ile338TyrfsTer2
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

7-99754322-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99754322
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99754322
    reference: chr 7
allele count: 24
allele frequency: 2.025487382901511e-4
allele num: 118490
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146826
  ensembl transcript: ENST00000498638
  gene symbol: C7orf43
  hgvsc: ENST00000498638.1:n.276G>C
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000406326
  ensembl transcript: ENST00000419841
  gene symbol: C7orf43
  hgvsc: ENST00000419841.1:c.315G>C
  hgvsp: ENST00000419841.1:c.315G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000399397
  ensembl transcript: ENST00000419037
  gene symbol: C7orf43
  hgvsc: ENST00000419037.1:c.*371G>C
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000324741
  ensembl transcript: ENST00000316937
  gene symbol: C7orf43
  hgvsc: ENST00000316937.3:c.1011G>C
  hgvsp: ENST00000316937.3:c.1011G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000400075
  ensembl transcript: ENST00000448720
  gene symbol: C7orf43
  hgvsc: ENST00000448720.1:c.212G>C
  hgvsp: ENST00000448720.1:c.212G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000396432
  ensembl transcript: ENST00000457641
  gene symbol: C7orf43
  hgvsc: ENST00000457641.1:c.204G>C
  hgvsp: ENST00000457641.1:c.204G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000389672
  ensembl transcript: ENST00000456769
  gene symbol: C7orf43
  hgvsc: ENST00000456769.1:c.727G>C
  hgvsp: ENST00000456769.1:c.727G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25604
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 1.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 19295
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3707
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10277
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19161
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9126
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2447
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27179
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu337Leu
num of homozygotes: 1
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP

7-99754322-CAG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99754322
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99754320
    reference: chr 7
allele count: 1
allele frequency: 8.439530762089629e-6
allele num: 118490
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000400075
  ensembl transcript: ENST00000448720
  gene symbol: C7orf43
  hgvsc: ENST00000448720.1:c.210_211delCT
  hgvsp: ENSP00000400075.1:p.Leu71AspfsTer40
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146826
  ensembl transcript: ENST00000498638
  gene symbol: C7orf43
  hgvsc: ENST00000498638.1:n.274_275delCT
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000389672
  ensembl transcript: ENST00000456769
  gene symbol: C7orf43
  hgvsc: ENST00000456769.1:c.725_726delCT
  hgvsp: ENSP00000389672.1:p.Leu243AspfsTer40
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000324741
  ensembl transcript: ENST00000316937
  gene symbol: C7orf43
  hgvsc: ENST00000316937.3:c.1009_1010delCT
  hgvsp: ENSP00000324741.3:p.Leu337AspfsTer40
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000406326
  ensembl transcript: ENST00000419841
  gene symbol: C7orf43
  hgvsc: ENST00000419841.1:c.313_314delCT
  hgvsp: ENSP00000406326.1:p.Leu105AspfsTer40
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000396432
  ensembl transcript: ENST00000457641
  gene symbol: C7orf43
  hgvsc: ENST00000457641.1:c.202_203delCT
  hgvsp: ENSP00000396432.1:p.Leu68AspfsTer40
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000399397
  ensembl transcript: ENST00000419037
  gene symbol: C7orf43
  hgvsc: ENST00000419037.1:c.*369_*370delCT
  variant of: http://identifiers.org/hgnc/25604
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3707
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19295
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19161
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10277
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4196
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2447
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu337AspfsTer40
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: European (Finnish)
reference allele: CAG
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP

7-99754326-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99754326
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99754326
    reference: chr 7
allele count: 1
allele frequency: 8.447943770486263e-6
allele num: 118372
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000399397
  ensembl transcript: ENST00000419037
  gene symbol: C7orf43
  hgvsc: ENST00000419037.1:c.*367C>T
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000389672
  ensembl transcript: ENST00000456769
  gene symbol: C7orf43
  hgvsc: ENST00000456769.1:c.723C>T
  hgvsp: ENSP00000389672.1:p.Pro242Leu
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000400075
  ensembl transcript: ENST00000448720
  gene symbol: C7orf43
  hgvsc: ENST00000448720.1:c.208C>T
  hgvsp: ENSP00000400075.1:p.Pro70Leu
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000324741
  ensembl transcript: ENST00000316937
  gene symbol: C7orf43
  hgvsc: ENST00000316937.3:c.1007C>T
  hgvsp: ENSP00000324741.3:p.Pro336Leu
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000396432
  ensembl transcript: ENST00000457641
  gene symbol: C7orf43
  hgvsc: ENST00000457641.1:c.200C>T
  hgvsp: ENSP00000396432.1:p.Pro67Leu
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000406326
  ensembl transcript: ENST00000419841
  gene symbol: C7orf43
  hgvsc: ENST00000419841.1:c.311C>T
  hgvsp: ENSP00000406326.1:p.Pro104Leu
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146826
  ensembl transcript: ENST00000498638
  gene symbol: C7orf43
  hgvsc: ENST00000498638.1:n.272C>T
  variant of: http://identifiers.org/hgnc/25604
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18657
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19275
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10313
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1768
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2390
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3730
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26422
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9112
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1405
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro336Leu
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum

7-99754337-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99754337
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99754337
    reference: chr 7
allele count: 1
allele frequency: 8.471560969824299e-6
allele num: 118042
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000146826
  ensembl transcript: ENST00000498638
  gene symbol: C7orf43
  hgvsc: ENST00000498638.1:n.261C>T
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000324741
  ensembl transcript: ENST00000316937
  gene symbol: C7orf43
  hgvsc: ENST00000316937.3:c.996C>T
  hgvsp: ENST00000316937.3:c.996C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000389672
  ensembl transcript: ENST00000456769
  gene symbol: C7orf43
  hgvsc: ENST00000456769.1:c.712C>T
  hgvsp: ENST00000456769.1:c.712C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000406326
  ensembl transcript: ENST00000419841
  gene symbol: C7orf43
  hgvsc: ENST00000419841.1:c.300C>T
  hgvsp: ENST00000419841.1:c.300C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000399397
  ensembl transcript: ENST00000419037
  gene symbol: C7orf43
  hgvsc: ENST00000419037.1:c.*356C>T
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000400075
  ensembl transcript: ENST00000448720
  gene symbol: C7orf43
  hgvsc: ENST00000448720.1:c.197C>T
  hgvsp: ENST00000448720.1:c.197C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000396432
  ensembl transcript: ENST00000457641
  gene symbol: C7orf43
  hgvsc: ENST00000457641.1:c.189C>T
  hgvsp: ENST00000457641.1:c.189C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25604
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2627
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10411
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19153
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3763
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18110
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1556
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4809
  bin: 7.75e1
  variant carriers: 0
hgvs: c.996C>T
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

7-99754343-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99754343
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99754343
    reference: chr 7
allele count: 147
allele frequency: 1.249171467903941e-3
allele num: 117678
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl transcript: ENST00000498638
  gene symbol: C7orf43
  hgvsc: ENST00000498638.1:n.259-4G>A
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000406326
  ensembl transcript: ENST00000419841
  gene symbol: C7orf43
  hgvsc: ENST00000419841.1:c.298-4G>A
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000399397
  ensembl transcript: ENST00000419037
  gene symbol: C7orf43
  hgvsc: ENST00000419037.1:c.*354-4G>A
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000324741
  ensembl transcript: ENST00000316937
  gene symbol: C7orf43
  hgvsc: ENST00000316937.3:c.994-4G>A
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000389672
  ensembl transcript: ENST00000456769
  gene symbol: C7orf43
  hgvsc: ENST00000456769.1:c.710-4G>A
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000400075
  ensembl transcript: ENST00000448720
  gene symbol: C7orf43
  hgvsc: ENST00000448720.1:c.195-4G>A
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000396432
  ensembl transcript: ENST00000457641
  gene symbol: C7orf43
  hgvsc: ENST00000457641.1:c.187-4G>A
  variant of: http://identifiers.org/hgnc/25604
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19047
  bin: 2.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10486
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2792
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3802
  bin: 3.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 5.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 17641
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1820
  bin: 4.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 1522
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 4.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 5.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 4813
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1429
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 837
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2783
  bin: 2.25e1
  variant carriers: 0
hgvs: c.994-4G>A
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

7-99754345-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99754345
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99754345
    reference: chr 7
allele count: 1
allele frequency: 8.493578854386084e-6
allele num: 117736
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl transcript: ENST00000498638
  gene symbol: C7orf43
  hgvsc: ENST00000498638.1:n.259-6C>T
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000406326
  ensembl transcript: ENST00000419841
  gene symbol: C7orf43
  hgvsc: ENST00000419841.1:c.298-6C>T
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000399397
  ensembl transcript: ENST00000419037
  gene symbol: C7orf43
  hgvsc: ENST00000419037.1:c.*354-6C>T
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000396432
  ensembl transcript: ENST00000457641
  gene symbol: C7orf43
  hgvsc: ENST00000457641.1:c.187-6C>T
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000389672
  ensembl transcript: ENST00000456769
  gene symbol: C7orf43
  hgvsc: ENST00000456769.1:c.710-6C>T
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000324741
  ensembl transcript: ENST00000316937
  gene symbol: C7orf43
  hgvsc: ENST00000316937.3:c.994-6C>T
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000400075
  ensembl transcript: ENST00000448720
  gene symbol: C7orf43
  hgvsc: ENST00000448720.1:c.195-6C>T
  variant of: http://identifiers.org/hgnc/25604
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3808
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10510
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19056
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17601
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2799
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2836
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 891
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3334
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4298
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4831
  bin: 7.75e1
  variant carriers: 0
hgvs: c.994-6C>T
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD

7-99754353-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99754353
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99754353
    reference: chr 7
allele count: 1
allele frequency: 8.513246611727849e-6
allele num: 117464
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000406326
  ensembl transcript: ENST00000419841
  gene symbol: C7orf43
  hgvsc: ENST00000419841.1:c.298-14T>A
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl transcript: ENST00000498638
  gene symbol: C7orf43
  hgvsc: ENST00000498638.1:n.259-14T>A
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000389672
  ensembl transcript: ENST00000456769
  gene symbol: C7orf43
  hgvsc: ENST00000456769.1:c.710-14T>A
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000399397
  ensembl transcript: ENST00000419037
  gene symbol: C7orf43
  hgvsc: ENST00000419037.1:c.*354-14T>A
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000396432
  ensembl transcript: ENST00000457641
  gene symbol: C7orf43
  hgvsc: ENST00000457641.1:c.187-14T>A
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000400075
  ensembl transcript: ENST00000448720
  gene symbol: C7orf43
  hgvsc: ENST00000448720.1:c.195-14T>A
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000324741
  ensembl transcript: ENST00000316937
  gene symbol: C7orf43
  hgvsc: ENST00000316937.3:c.994-14T>A
  variant of: http://identifiers.org/hgnc/25604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19005
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1860
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3854
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10589
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17276
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2799
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1582
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 948
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25105
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3351
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 896
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD

7-99754357-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99754357
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99754357
    reference: chr 7
allele count: 3
allele frequency: 2.558286289291014e-5
allele num: 117266
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000324741
  ensembl transcript: ENST00000316937
  gene symbol: C7orf43
  hgvsc: ENST00000316937.3:c.994-18C>A
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl transcript: ENST00000498638
  gene symbol: C7orf43
  hgvsc: ENST00000498638.1:n.259-18C>A
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000396432
  ensembl transcript: ENST00000457641
  gene symbol: C7orf43
  hgvsc: ENST00000457641.1:c.187-18C>A
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000389672
  ensembl transcript: ENST00000456769
  gene symbol: C7orf43
  hgvsc: ENST00000456769.1:c.710-18C>A
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000399397
  ensembl transcript: ENST00000419037
  gene symbol: C7orf43
  hgvsc: ENST00000419037.1:c.*354-18C>A
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000400075
  ensembl transcript: ENST00000448720
  gene symbol: C7orf43
  hgvsc: ENST00000448720.1:c.195-18C>A
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000406326
  ensembl transcript: ENST00000419841
  gene symbol: C7orf43
  hgvsc: ENST00000419841.1:c.298-18C>A
  variant of: http://identifiers.org/hgnc/25604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17139
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2760
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19004
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3869
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10612
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1873
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 937
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2746
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1455
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4327
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 24944
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4886
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

7-99754358-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99754358
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99754358
    reference: chr 7
allele count: 1
allele frequency: 8.527766407422568e-6
allele num: 117264
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000400075
  ensembl transcript: ENST00000448720
  gene symbol: C7orf43
  hgvsc: ENST00000448720.1:c.195-19C>G
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000406326
  ensembl transcript: ENST00000419841
  gene symbol: C7orf43
  hgvsc: ENST00000419841.1:c.298-19C>G
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl transcript: ENST00000498638
  gene symbol: C7orf43
  hgvsc: ENST00000498638.1:n.259-19C>G
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000324741
  ensembl transcript: ENST00000316937
  gene symbol: C7orf43
  hgvsc: ENST00000316937.3:c.994-19C>G
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000399397
  ensembl transcript: ENST00000419037
  gene symbol: C7orf43
  hgvsc: ENST00000419037.1:c.*354-19C>G
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000389672
  ensembl transcript: ENST00000456769
  gene symbol: C7orf43
  hgvsc: ENST00000456769.1:c.710-19C>G
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000396432
  ensembl transcript: ENST00000457641
  gene symbol: C7orf43
  hgvsc: ENST00000457641.1:c.187-19C>G
  variant of: http://identifiers.org/hgnc/25604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10616
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1759
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2746
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1879
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17115
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3874
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18989
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 948
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3364
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 917
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2739
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP

7-99754359-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99754359
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99754359
    reference: chr 7
allele count: 1
allele frequency: 8.542043940274029e-6
allele num: 117068
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl transcript: ENST00000498638
  gene symbol: C7orf43
  hgvsc: ENST00000498638.1:n.259-20C>G
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000406326
  ensembl transcript: ENST00000419841
  gene symbol: C7orf43
  hgvsc: ENST00000419841.1:c.298-20C>G
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000396432
  ensembl transcript: ENST00000457641
  gene symbol: C7orf43
  hgvsc: ENST00000457641.1:c.187-20C>G
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000400075
  ensembl transcript: ENST00000448720
  gene symbol: C7orf43
  hgvsc: ENST00000448720.1:c.195-20C>G
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000324741
  ensembl transcript: ENST00000316937
  gene symbol: C7orf43
  hgvsc: ENST00000316937.3:c.994-20C>G
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000389672
  ensembl transcript: ENST00000456769
  gene symbol: C7orf43
  hgvsc: ENST00000456769.1:c.710-20C>G
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000399397
  ensembl transcript: ENST00000419037
  gene symbol: C7orf43
  hgvsc: ENST00000419037.1:c.*354-20C>G
  variant of: http://identifiers.org/hgnc/25604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2695
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10626
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17050
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1883
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18952
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3880
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1802
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2556
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 962
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 908
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4439
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: African
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: BaseQRankSum

7-99754360-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99754360
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99754360
    reference: chr 7
allele count: 1
allele frequency: 8.541022531217438e-6
allele num: 117082
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000406326
  ensembl transcript: ENST00000419841
  gene symbol: C7orf43
  hgvsc: ENST00000419841.1:c.298-21C>T
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000399397
  ensembl transcript: ENST00000419037
  gene symbol: C7orf43
  hgvsc: ENST00000419037.1:c.*354-21C>T
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000400075
  ensembl transcript: ENST00000448720
  gene symbol: C7orf43
  hgvsc: ENST00000448720.1:c.195-21C>T
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000396432
  ensembl transcript: ENST00000457641
  gene symbol: C7orf43
  hgvsc: ENST00000457641.1:c.187-21C>T
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000389672
  ensembl transcript: ENST00000456769
  gene symbol: C7orf43
  hgvsc: ENST00000456769.1:c.710-21C>T
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl transcript: ENST00000498638
  gene symbol: C7orf43
  hgvsc: ENST00000498638.1:n.259-21C>T
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000324741
  ensembl transcript: ENST00000316937
  gene symbol: C7orf43
  hgvsc: ENST00000316937.3:c.994-21C>T
  variant of: http://identifiers.org/hgnc/25604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17050
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1885
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18940
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10646
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1812
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2685
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3883
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2594
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1598
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 959
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4908
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4447
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1457
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 911
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP

7-99754374-TAA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99754374
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99754372
    reference: chr 7
allele count: 3
allele frequency: 2.568449170390918e-5
allele num: 116802
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl transcript: ENST00000498638
  gene symbol: C7orf43
  hgvsc: ENST00000498638.1:n.259-37_259-36delTT
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000396432
  ensembl transcript: ENST00000457641
  gene symbol: C7orf43
  hgvsc: ENST00000457641.1:c.187-37_187-36delTT
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000389672
  ensembl transcript: ENST00000456769
  gene symbol: C7orf43
  hgvsc: ENST00000456769.1:c.710-37_710-36delTT
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000399397
  ensembl transcript: ENST00000419037
  gene symbol: C7orf43
  hgvsc: ENST00000419037.1:c.*354-37_*354-36delTT
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000406326
  ensembl transcript: ENST00000419841
  gene symbol: C7orf43
  hgvsc: ENST00000419841.1:c.298-37_298-36delTT
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000400075
  ensembl transcript: ENST00000448720
  gene symbol: C7orf43
  hgvsc: ENST00000448720.1:c.195-37_195-36delTT
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000324741
  ensembl transcript: ENST00000316937
  gene symbol: C7orf43
  hgvsc: ENST00000316937.3:c.994-37_994-36delTT
  variant of: http://identifiers.org/hgnc/25604
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3967
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1952
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10769
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18888
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2544
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16894
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1948
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1494
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 925
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3462
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 875
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: TAA
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum

7-99754382-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99754382
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99754382
    reference: chr 7
allele count: 1
allele frequency: 8.575593859874796e-6
allele num: 116610
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000324741
  ensembl transcript: ENST00000316937
  gene symbol: C7orf43
  hgvsc: ENST00000316937.3:c.994-43G>A
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000396432
  ensembl transcript: ENST00000457641
  gene symbol: C7orf43
  hgvsc: ENST00000457641.1:c.187-43G>A
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000389672
  ensembl transcript: ENST00000456769
  gene symbol: C7orf43
  hgvsc: ENST00000456769.1:c.710-43G>A
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000399397
  ensembl transcript: ENST00000419037
  gene symbol: C7orf43
  hgvsc: ENST00000419037.1:c.*354-43G>A
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000400075
  ensembl transcript: ENST00000448720
  gene symbol: C7orf43
  hgvsc: ENST00000448720.1:c.195-43G>A
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl transcript: ENST00000498638
  gene symbol: C7orf43
  hgvsc: ENST00000498638.1:n.259-43G>A
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000406326
  ensembl transcript: ENST00000419841
  gene symbol: C7orf43
  hgvsc: ENST00000419841.1:c.298-43G>A
  variant of: http://identifiers.org/hgnc/25604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16926
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10828
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1956
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18865
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2474
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4014
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4554
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1512
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 912
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2468
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4407
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 294
  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: C
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum

7-99754383-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99754383
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99754383
    reference: chr 7
allele count: 1
allele frequency: 8.563990134283366e-6
allele num: 116768
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000399397
  ensembl transcript: ENST00000419037
  gene symbol: C7orf43
  hgvsc: ENST00000419037.1:c.*354-44G>A
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000400075
  ensembl transcript: ENST00000448720
  gene symbol: C7orf43
  hgvsc: ENST00000448720.1:c.195-44G>A
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl transcript: ENST00000498638
  gene symbol: C7orf43
  hgvsc: ENST00000498638.1:n.259-44G>A
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000396432
  ensembl transcript: ENST00000457641
  gene symbol: C7orf43
  hgvsc: ENST00000457641.1:c.187-44G>A
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000406326
  ensembl transcript: ENST00000419841
  gene symbol: C7orf43
  hgvsc: ENST00000419841.1:c.298-44G>A
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000389672
  ensembl transcript: ENST00000456769
  gene symbol: C7orf43
  hgvsc: ENST00000456769.1:c.710-44G>A
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000324741
  ensembl transcript: ENST00000316937
  gene symbol: C7orf43
  hgvsc: ENST00000316937.3:c.994-44G>A
  variant of: http://identifiers.org/hgnc/25604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10836
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2477
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18886
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1939
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1981
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16946
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4022
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24582
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 905
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1660
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2521
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

7-99754389-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99754389
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99754389
    reference: chr 7
allele count: 4
allele frequency: 3.418219107844813e-5
allele num: 117020
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000396432
  ensembl transcript: ENST00000457641
  gene symbol: C7orf43
  hgvsc: ENST00000457641.1:c.187-50G>A
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000400075
  ensembl transcript: ENST00000448720
  gene symbol: C7orf43
  hgvsc: ENST00000448720.1:c.195-50G>A
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000399397
  ensembl transcript: ENST00000419037
  gene symbol: C7orf43
  hgvsc: ENST00000419037.1:c.*354-50G>A
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000389672
  ensembl transcript: ENST00000456769
  gene symbol: C7orf43
  hgvsc: ENST00000456769.1:c.710-50G>A
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl transcript: ENST00000498638
  gene symbol: C7orf43
  hgvsc: ENST00000498638.1:n.259-50G>A
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000406326
  ensembl transcript: ENST00000419841
  gene symbol: C7orf43
  hgvsc: ENST00000419841.1:c.298-50G>A
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000324741
  ensembl transcript: ENST00000316937
  gene symbol: C7orf43
  hgvsc: ENST00000316937.3:c.994-50G>A
  variant of: http://identifiers.org/hgnc/25604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10886
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18944
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4051
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1862
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17004
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2434
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1997
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9237
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4602
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2389
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1676
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: African
population: East Asian
reference allele: C
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/7-99754420-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99754420
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99754420
    reference: chr 7
allele count: 166
allele frequency: 1.381238455009902e-3
allele num: 120182
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000396432
  ensembl transcript: ENST00000457641
  gene symbol: C7orf43
  hgvsc: ENST00000457641.1:c.186+48G>T
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000324741
  ensembl transcript: ENST00000316937
  gene symbol: C7orf43
  hgvsc: ENST00000316937.3:c.993+48G>T
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000399397
  ensembl transcript: ENST00000419037
  gene symbol: C7orf43
  hgvsc: ENST00000419037.1:c.*353+48G>T
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl transcript: ENST00000498638
  gene symbol: C7orf43
  hgvsc: ENST00000498638.1:n.258+48G>T
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000406326
  ensembl transcript: ENST00000419841
  gene symbol: C7orf43
  hgvsc: ENST00000419841.1:c.297+48G>T
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000389672
  ensembl transcript: ENST00000456769
  gene symbol: C7orf43
  hgvsc: ENST00000456769.1:c.709+48G>T
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000400075
  ensembl transcript: ENST00000448720
  gene symbol: C7orf43
  hgvsc: ENST00000448720.1:c.194+48G>T
  variant of: http://identifiers.org/hgnc/25604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 1.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 13056
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3800
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1879
  bin: 1.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 7.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 9.75e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 8.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 25682
  bin: 2.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 8136
  bin: 2.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5491
  bin: 9.75e1
  variant carriers: 161
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 1
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

7-99754430-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99754430
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99754430
    reference: chr 7
allele count: 1
allele frequency: 8.317391665973551e-6
allele num: 120230
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000389672
  ensembl transcript: ENST00000456769
  gene symbol: C7orf43
  hgvsc: ENST00000456769.1:c.709+38T>C
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000399397
  ensembl transcript: ENST00000419037
  gene symbol: C7orf43
  hgvsc: ENST00000419037.1:c.*353+38T>C
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000396432
  ensembl transcript: ENST00000457641
  gene symbol: C7orf43
  hgvsc: ENST00000457641.1:c.186+38T>C
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000400075
  ensembl transcript: ENST00000448720
  gene symbol: C7orf43
  hgvsc: ENST00000448720.1:c.194+38T>C
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl transcript: ENST00000498638
  gene symbol: C7orf43
  hgvsc: ENST00000498638.1:n.258+38T>C
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000324741
  ensembl transcript: ENST00000316937
  gene symbol: C7orf43
  hgvsc: ENST00000316937.3:c.993+38T>C
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000406326
  ensembl transcript: ENST00000419841
  gene symbol: C7orf43
  hgvsc: ENST00000419841.1:c.297+38T>C
  variant of: http://identifiers.org/hgnc/25604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25815
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13071
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3785
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8983
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3733
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2101
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 940
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 940
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10623
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 903
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

7-99754438-T-TCCAAGGTTGTTGAGGGGCGTGTGGCAGACGACGGAGTCCAGGGCAGCCTGCATGGCCCGGCG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99754438
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99754500
    reference: chr 7
allele count: 1
allele frequency: 8.312275568559649e-6
allele num: 120304
alternate allele: TCCAAGGTTGTTGAGGGGCGTGTGGCAGACGACGGAGTCCAGGGCAGCCTGCATGGCCCGGCG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000406326
  ensembl transcript: ENST00000419841
  gene symbol: C7orf43
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000400075
  ensembl transcript: ENST00000448720
  gene symbol: C7orf43
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000399397
  ensembl transcript: ENST00000419037
  gene symbol: C7orf43
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000396432
  ensembl transcript: ENST00000457641
  gene symbol: C7orf43
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000324741
  ensembl transcript: ENST00000316937
  gene symbol: C7orf43
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl transcript: ENST00000498638
  gene symbol: C7orf43
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000389672
  ensembl transcript: ENST00000456769
  gene symbol: C7orf43
  variant of: http://identifiers.org/hgnc/25604
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 3783
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9405
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13105
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25922
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3672
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10658
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 897
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 937
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: T
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

7-99754443-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99754443
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99754443
    reference: chr 7
allele count: 1
allele frequency: 8.313381218409152e-6
allele num: 120288
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000399397
  ensembl transcript: ENST00000419037
  gene symbol: C7orf43
  hgvsc: ENST00000419037.1:c.*353+25C>A
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000396432
  ensembl transcript: ENST00000457641
  gene symbol: C7orf43
  hgvsc: ENST00000457641.1:c.186+25C>A
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000324741
  ensembl transcript: ENST00000316937
  gene symbol: C7orf43
  hgvsc: ENST00000316937.3:c.993+25C>A
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl transcript: ENST00000498638
  gene symbol: C7orf43
  hgvsc: ENST00000498638.1:n.258+25C>A
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000389672
  ensembl transcript: ENST00000456769
  gene symbol: C7orf43
  hgvsc: ENST00000456769.1:c.709+25C>A
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000406326
  ensembl transcript: ENST00000419841
  gene symbol: C7orf43
  hgvsc: ENST00000419841.1:c.297+25C>A
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000400075
  ensembl transcript: ENST00000448720
  gene symbol: C7orf43
  hgvsc: ENST00000448720.1:c.194+25C>A
  variant of: http://identifiers.org/hgnc/25604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3785
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25979
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13121
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9581
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30569
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3683
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 936
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD

7-99754454-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99754454
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99754454
    reference: chr 7
allele count: 1
allele frequency: 8.302337938363443e-6
allele num: 120448
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000324741
  ensembl transcript: ENST00000316937
  gene symbol: C7orf43
  hgvsc: ENST00000316937.3:c.993+14G>A
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl transcript: ENST00000498638
  gene symbol: C7orf43
  hgvsc: ENST00000498638.1:n.258+14G>A
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000406326
  ensembl transcript: ENST00000419841
  gene symbol: C7orf43
  hgvsc: ENST00000419841.1:c.297+14G>A
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000396432
  ensembl transcript: ENST00000457641
  gene symbol: C7orf43
  hgvsc: ENST00000457641.1:c.186+14G>A
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000389672
  ensembl transcript: ENST00000456769
  gene symbol: C7orf43
  hgvsc: ENST00000456769.1:c.709+14G>A
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000399397
  ensembl transcript: ENST00000419037
  gene symbol: C7orf43
  hgvsc: ENST00000419037.1:c.*353+14G>A
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000400075
  ensembl transcript: ENST00000448720
  gene symbol: C7orf43
  hgvsc: ENST00000448720.1:c.194+14G>A
  variant of: http://identifiers.org/hgnc/25604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3788
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13186
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26320
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9889
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5329
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3708
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3819
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum

7-99754460-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99754460
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99754460
    reference: chr 7
allele count: 1
allele frequency: 8.296689620841284e-6
allele num: 120530
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000400075
  ensembl transcript: ENST00000448720
  gene symbol: C7orf43
  hgvsc: ENST00000448720.1:c.194+8T>C
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000399397
  ensembl transcript: ENST00000419037
  gene symbol: C7orf43
  hgvsc: ENST00000419037.1:c.*353+8T>C
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000389672
  ensembl transcript: ENST00000456769
  gene symbol: C7orf43
  hgvsc: ENST00000456769.1:c.709+8T>C
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000406326
  ensembl transcript: ENST00000419841
  gene symbol: C7orf43
  hgvsc: ENST00000419841.1:c.297+8T>C
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000324741
  ensembl transcript: ENST00000316937
  gene symbol: C7orf43
  hgvsc: ENST00000316937.3:c.993+8T>C
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl transcript: ENST00000498638
  gene symbol: C7orf43
  hgvsc: ENST00000498638.1:n.258+8T>C
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000396432
  ensembl transcript: ENST00000457641
  gene symbol: C7orf43
  hgvsc: ENST00000457641.1:c.186+8T>C
  variant of: http://identifiers.org/hgnc/25604
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3786
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10025
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13195
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26432
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3830
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3726
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 2.25e1
  variant carriers: 0
hgvs: c.993+8T>C
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
reference allele: A
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD

7-99754461-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99754461
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99754461
    reference: chr 7
allele count: 1
allele frequency: 8.298204268596276e-6
allele num: 120508
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000396432
  ensembl transcript: ENST00000457641
  gene symbol: C7orf43
  hgvsc: ENST00000457641.1:c.186+7A>G
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000324741
  ensembl transcript: ENST00000316937
  gene symbol: C7orf43
  hgvsc: ENST00000316937.3:c.993+7A>G
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl transcript: ENST00000498638
  gene symbol: C7orf43
  hgvsc: ENST00000498638.1:n.258+7A>G
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000399397
  ensembl transcript: ENST00000419037
  gene symbol: C7orf43
  hgvsc: ENST00000419037.1:c.*353+7A>G
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000400075
  ensembl transcript: ENST00000448720
  gene symbol: C7orf43
  hgvsc: ENST00000448720.1:c.194+7A>G
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000406326
  ensembl transcript: ENST00000419841
  gene symbol: C7orf43
  hgvsc: ENST00000419841.1:c.297+7A>G
  variant of: http://identifiers.org/hgnc/25604
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146826
  ensembl protein: ENSP00000389672
  ensembl transcript: ENST00000456769
  gene symbol: C7orf43
  hgvsc: ENST00000456769.1:c.709+7A>G
  variant of: http://identifiers.org/hgnc/25604
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13198
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
hgvs: c.993+7A>G
num of homozygotes: 0
reference allele: T

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

GenotypeQuality
all individuals: 90
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2405
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3981
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 147
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9370
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1094
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34160
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1280
bin: 9.25e1
variant carriers: 0

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

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

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

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

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6540
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.084e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.336e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.431e0

QD
type: SiteQuality
SIO_000300: 6.52e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.14e-1

FS
type: SiteQuality
SIO_000300: 6.722e0

MQ
type: SiteQuality
SIO_000300: 5.958e1

DP
type: SiteQuality
SIO_000300: 1.668254e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

GenotypeQuality
all individuals: 118
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2402
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3616
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3981
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 158
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33785
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1092
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1280
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3663
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

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

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6540
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500375093773443e-5
allele num: 66650
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.943e1

FS
type: SiteQuality
SIO_000300: 5.281e0

DP
type: SiteQuality
SIO_000300: 1.667605e6

MQRankSum
type: SiteQuality
SIO_000300: 5.97e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.862e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.525e0

QD
type: SiteQuality
SIO_000300: 1.029e1

VQSLOD
type: SiteQuality
SIO_000300: -8.324e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.43e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
all individuals: 186
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2401
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33627
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1280
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 219
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9357
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1093
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3616
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6536
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.628345850182938e-5
allele num: 10386
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 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: 1
allele frequency: 1.500645277469312e-5
allele num: 66638
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.464e1

MQRankSum
type: SiteQuality
SIO_000300: -2.16e-1

DP
type: SiteQuality
SIO_000300: 1.666476e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.3e-1

FS
type: SiteQuality
SIO_000300: 1.073e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.6e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.21e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.7e0

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

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

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

GenotypeQuality
all individuals: 247
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1279
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1093
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3657
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3981
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 9348
bin: 6.75e1
variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
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: 3
allele frequency: 4.502476361999099e-5
allele num: 66630
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.923e1

QD
type: SiteQuality
SIO_000300: 1.394e1

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 8.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 2.459e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.63e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.65e-1

DP
type: SiteQuality
SIO_000300: 1.666671e6

GenotypeQuality
all individuals: 120
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 241
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1278
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33572
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1093
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 279
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2394
bin: 8.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6536
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501005673801447e-5
allele num: 66622
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 9.89e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.24e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.899e0

MQRankSum
type: SiteQuality
SIO_000300: -1.64e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.307e1

DP
type: SiteQuality
SIO_000300: 1.66662e6

VQSLOD
type: SiteQuality
SIO_000300: 6.35e-1

GenotypeQuality
all individuals: 259
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 423
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33451
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1279
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3639
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3977
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 249
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2385
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1090
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 5.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6532
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.503152206544582e-5
allele num: 66620
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.106194690265487e-3
allele num: 904
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.351e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.0e-2

MQRankSum
type: SiteQuality
SIO_000300: 5.4e-2

QD
type: SiteQuality
SIO_000300: 1.493e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 6.6e-1

DP
type: SiteQuality
SIO_000300: 1.665613e6

GenotypeQuality
all individuals: 1273
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 270
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 386
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1088
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 317
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3976
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3622
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32954
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50195253829979e-5
allele num: 66580
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6528
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11520
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 5.505e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 8.3e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.79e0

DP
type: SiteQuality
SIO_000300: 1.66261e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.28e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.2e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.73e-1

QD
type: SiteQuality
SIO_000300: 6.2e-1

GenotypeQuality
all individuals: 276
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9176
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3587
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 297
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32989
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1270
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 378
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 521
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3617
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.00817111271329e-5
allele num: 66576
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6526
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.503e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.9e-1

DP
type: SiteQuality
SIO_000300: 1.663066e6

VQSLOD
type: SiteQuality
SIO_000300: 1.17e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 8.86e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.008e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.62e-1

GenotypeQuality
all individuals: 3972
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3624
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 344
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 398
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2365
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 364
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1087
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3573
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.663703131039814e-5
allele num: 10348
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6516
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66536
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.95e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.585e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.391e0

DP
type: SiteQuality
SIO_000300: 1.657645e6

MQRankSum
type: SiteQuality
SIO_000300: -5.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.18e-1

QD
type: SiteQuality
SIO_000300: 1.233e1

GenotypeQuality
all individuals: 344
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1087
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 417
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9136
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2369
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3972
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 376
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3622
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1271
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66528
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.156871818602499e-4
allele num: 8644
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6510
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.657507e6

VQSLOD
type: SiteQuality
SIO_000300: 4.65e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.39e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.669999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.64e-1

FS
type: SiteQuality
SIO_000300: 6.806e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.254e0

QD
type: SiteQuality
SIO_000300: 1.506e1

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

GenotypeQuality
all individuals: 19
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
all individuals: 1267
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2348
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3976
bin: 9.75e1
variant carriers: 7

African
type: Population
allele count: 2
allele frequency: 1.936108422071636e-4
allele num: 10330
num of homozygotes: 0

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

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66478
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.032508491023775e-4
allele num: 16488
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.2e-1

MQ
type: SiteQuality
SIO_000300: 5.943e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.54e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.5e-1

DP
type: SiteQuality
SIO_000300: 1.652925e6

QD
type: SiteQuality
SIO_000300: 1.206e1

GenotypeQuality
all individuals: 10
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 449
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 4.25e1
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GenotypeQuality
all individuals: 3576
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 7.5e0
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GenotypeQuality
all individuals: 9015
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variant carriers: 0

GenotypeQuality
all individuals: 517
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1264
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32388
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504573904670197e-5
allele num: 66464
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6494
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10318
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.43e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.63e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

DP
type: SiteQuality
SIO_000300: 1.650021e6

VQSLOD
type: SiteQuality
SIO_000300: -3.997e-1

FS
type: SiteQuality
SIO_000300: 2.709e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.22e-1

QD
type: SiteQuality
SIO_000300: 1.174e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 604
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 615
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 349
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8872
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1118
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3517
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 725
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2322
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4011
bin: 9.75e1
variant carriers: 49

GenotypeQuality
all individuals: 3473
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 48
allele frequency: 7.230657989877079e-4
allele num: 66384
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: 10290
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6482
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.071645415907711e-5
allele num: 16470
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.96e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.41e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.06e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.06e0

MQRankSum
type: SiteQuality
SIO_000300: 5.2e-2

FS
type: SiteQuality
SIO_000300: 1.85e0

DP
type: SiteQuality
SIO_000300: 1.645356e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

QD
type: SiteQuality
SIO_000300: 1.259e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.57e-1

GenotypeQuality
all individuals: 609
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31046
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 617
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variant carriers: 0

GenotypeQuality
all individuals: 23
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variant carriers: 0

GenotypeQuality
all individuals: 342
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variant carriers: 0

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

GenotypeQuality
all individuals: 21
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1224
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variant carriers: 0

GenotypeQuality
all individuals: 1076
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 736
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508250128201261e-5
allele num: 66302
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10272
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6478
num of homozygotes: 0

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.74e-1

FS
type: SiteQuality
SIO_000300: 1.018e0

DP
type: SiteQuality
SIO_000300: 1.64192e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.054e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 7.82e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.83e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.1e-2

GenotypeQuality
all individuals: 668
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8639
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
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GenotypeQuality
all individuals: 17
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variant carriers: 0

GenotypeQuality
all individuals: 31686
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variant carriers: 0

GenotypeQuality
all individuals: 1258
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GenotypeQuality
all individuals: 1341
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variant carriers: 0

GenotypeQuality
all individuals: 3418
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variant carriers: 0

GenotypeQuality
all individuals: 2286
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variant carriers: 0

GenotypeQuality
all individuals: 643
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variant carriers: 0

GenotypeQuality
all individuals: 1077
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10268
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.431906614785992e-4
allele num: 16448
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66270
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 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: 6474
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11462
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 7.74e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.05e-1

FS
type: SiteQuality
SIO_000300: 1.9613e1

VQSLOD
type: SiteQuality
SIO_000300: -2.756e0

DP
type: SiteQuality
SIO_000300: 1.638772e6

QD
type: SiteQuality
SIO_000300: 1.298e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.12e0

GenotypeQuality
all individuals: 3419
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1254
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3458
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
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variant carriers: 0

GenotypeQuality
all individuals: 31856
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 251
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GenotypeQuality
all individuals: 8653
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variant carriers: 0

GenotypeQuality
all individuals: 296
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variant carriers: 0

GenotypeQuality
all individuals: 1074
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variant carriers: 0

GenotypeQuality
all individuals: 337
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3959
bin: 9.75e1
variant carriers: 6

Other
type: Population
allele count: 1
allele frequency: 1.121076233183856e-3
allele num: 892
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.216101179618144e-4
allele num: 16446
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.017865765330758e-5
allele num: 66272
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.733307377846993e-5
allele num: 10274
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6472
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.637227e6

QD
type: SiteQuality
SIO_000300: 1.265e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.58e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.39e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.8e-2

GenotypeQuality
all individuals: 23
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 2278
bin: 8.25e1
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GenotypeQuality
all individuals: 3389
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variant carriers: 0

GenotypeQuality
all individuals: 828
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1003
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 356
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GenotypeQuality
all individuals: 1253
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 539
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8580
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11456
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66226
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6466
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10250
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16410
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.273e0

VQSLOD
type: SiteQuality
SIO_000300: 4.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.98e1

MQRankSum
type: SiteQuality
SIO_000300: -1.02e-1

QD
type: SiteQuality
SIO_000300: 1.666e1

DP
type: SiteQuality
SIO_000300: 1.628551e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.169999999999999e-1

GenotypeQuality
all individuals: 23
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3385
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1146
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1251
bin: 9.25e1
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GenotypeQuality
all individuals: 728
bin: 5.25e1
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GenotypeQuality
all individuals: 2282
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8420
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1776
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1064
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 922
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 620
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6460
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.098304671301378e-5
allele num: 16398
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10234
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66228
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 4.74e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.396e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.41e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 7.78e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 1.16e0

DP
type: SiteQuality
SIO_000300: 1.622456e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.481e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.3e0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 6.25e1
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: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8382
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16392
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66206
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6446
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.621002970470033e-4
allele num: 11446
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10234
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.04e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.81e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.003e0

VQSLOD
type: SiteQuality
SIO_000300: -1.841e0

MQRankSum
type: SiteQuality
SIO_000300: 2.86e-1

DP
type: SiteQuality
SIO_000300: 1.621423e6

QD
type: SiteQuality
SIO_000300: 8.720000000000001e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.815e1

GenotypeQuality
all individuals: 1973
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 595
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1124
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8273
bin: 6.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10232
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6448
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16368
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511167528032158e-5
allele num: 66174
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.067e0

MQ
type: SiteQuality
SIO_000300: 5.928e1

FS
type: SiteQuality
SIO_000300: 1.0527e1

DP
type: SiteQuality
SIO_000300: 1.613098e6

QD
type: SiteQuality
SIO_000300: 3.12e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.37e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -9.68e-1

GenotypeQuality
all individuals: 7960
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2378
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1045
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3952
bin: 9.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6432
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66076
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16280
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11426
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.160900859066636e-4
allele num: 8614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10182
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.594418e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.86e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.103e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.089e0

MQRankSum
type: SiteQuality
SIO_000300: 2.08e0

QD
type: SiteQuality
SIO_000300: 1.163e1

GenotypeQuality
all individuals: 3959
bin: 9.75e1
variant carriers: 8

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

GenotypeQuality
all individuals: 20
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 27599
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2247
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variant carriers: 0

GenotypeQuality
all individuals: 7925
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.054734802615645e-5
allele num: 66064
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.805844283192783e-5
allele num: 10198
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.842525488269254e-4
allele num: 16282
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6428
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11430
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.53e-1

QD
type: SiteQuality
SIO_000300: 1.556e1

VQSLOD
type: SiteQuality
SIO_000300: 3.66e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.58e-1

DP
type: SiteQuality
SIO_000300: 1.594071e6

FS
type: SiteQuality
SIO_000300: 5.3e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.15e-1

GenotypeQuality
all individuals: 450
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3950
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1542
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variant carriers: 0

GenotypeQuality
all individuals: 911
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variant carriers: 0

GenotypeQuality
all individuals: 3300
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variant carriers: 0

GenotypeQuality
all individuals: 3261
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variant carriers: 0

GenotypeQuality
all individuals: 1700
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GenotypeQuality
all individuals: 2246
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variant carriers: 0

GenotypeQuality
all individuals: 1025
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variant carriers: 0

GenotypeQuality
all individuals: 1249
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6420
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.027367401307823e-5
allele num: 66064
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11424
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.589584e6

MQRankSum
type: SiteQuality
SIO_000300: 3.95e-1

FS
type: SiteQuality
SIO_000300: 7.058e0

QD
type: SiteQuality
SIO_000300: 1.35e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.99e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.85e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.41e-1

GenotypeQuality
all individuals: 20
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7719
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 915
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GenotypeQuality
all individuals: 3949
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 526
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GenotypeQuality
all individuals: 3231
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10174
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6410
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516024377671993e-5
allele num: 65962
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16172
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.08e0

QD
type: SiteQuality
SIO_000300: 1.016e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.2e-2

VQSLOD
type: SiteQuality
SIO_000300: -9.48e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.7e-2

DP
type: SiteQuality
SIO_000300: 1.580176e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.73e-1

GenotypeQuality
all individuals: 3947
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 926
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variant carriers: 0

GenotypeQuality
all individuals: 48
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1210
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3272
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6412
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.16198001394376e-4
allele num: 8606
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10182
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16138
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65956
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -5.634e-1

FS
type: SiteQuality
SIO_000300: 2.187e0

DP
type: SiteQuality
SIO_000300: 1.5785e6

MQRankSum
type: SiteQuality
SIO_000300: -2.95e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.95e-1

QD
type: SiteQuality
SIO_000300: 6.63e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.062e0

GenotypeQuality
all individuals: 58
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variant carriers: 0

GenotypeQuality
all individuals: 3079
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GenotypeQuality
all individuals: 3179
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variant carriers: 0

GenotypeQuality
all individuals: 73
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GenotypeQuality
all individuals: 3951
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1049
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variant carriers: 0

GenotypeQuality
all individuals: 581
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variant carriers: 0

GenotypeQuality
all individuals: 24620
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65874
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16066
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.832841691248771e-5
allele num: 10170
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11412
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6392
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.973e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.496e0

MQRankSum
type: SiteQuality
SIO_000300: -6.02e-1

QD
type: SiteQuality
SIO_000300: 1.773e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.72e-1

FS
type: SiteQuality
SIO_000300: 1.2446e1

VQSLOD
type: SiteQuality
SIO_000300: -6.697e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.55e-1

DP
type: SiteQuality
SIO_000300: 1.571695e6

GenotypeQuality
all individuals: 816
bin: 5.75e1
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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2151
bin: 3.75e1
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GenotypeQuality
all individuals: 3213
bin: 2.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.520958812435359e-5
allele num: 65748
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10144
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15908
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.3e-2

DP
type: SiteQuality
SIO_000300: 1.566661e6

FS
type: SiteQuality
SIO_000300: 3.084e0

QD
type: SiteQuality
SIO_000300: 1.155e1

VQSLOD
type: SiteQuality
SIO_000300: 1.98e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.830000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.399e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.07e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 7464
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23959
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2256
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
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variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 7.5e0
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GenotypeQuality
all individuals: 1052
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1181
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3218
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3951
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3299
bin: 2.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15910
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6414
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11398
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10150
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.52031135976648e-5
allele num: 65776
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

FS
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SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.25e-1

QD
type: SiteQuality
SIO_000300: 1.378e1

MQRankSum
type: SiteQuality
SIO_000300: -4.36e-1

MQ
type: SiteQuality
SIO_000300: 5.923e1

DP
type: SiteQuality
SIO_000300: 1.563923e6

VQSLOD
type: SiteQuality
SIO_000300: 3.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.54e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.2e-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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variant carriers: 0

GenotypeQuality
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variant carriers: 1

South Asian
type: Population
allele count: 1
allele frequency: 6.349206349206349e-5
allele num: 15750
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65656
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10118
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6388
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 7.18e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.104e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.550769e6

MQRankSum
type: SiteQuality
SIO_000300: -5.94e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.002e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.727e0

GenotypeQuality
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variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11378
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8580
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.055114261273371e-5
allele num: 65464
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6382
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15340
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 9.91e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.4e-1

FS
type: SiteQuality
SIO_000300: 3.993e0

DP
type: SiteQuality
SIO_000300: 1.55186e6

MQRankSum
type: SiteQuality
SIO_000300: 7.99e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.97e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.491e0

QD
type: SiteQuality
SIO_000300: 1.233e1

GenotypeQuality
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variant carriers: 0

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
all individuals: 1312
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.788890841975742e-5
allele num: 11378
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8580
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10112
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15432
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65576
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6402
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.25e-1

DP
type: SiteQuality
SIO_000300: 1.554285e6

VQSLOD
type: SiteQuality
SIO_000300: 7.0e-1

FS
type: SiteQuality
SIO_000300: 2.533e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.07e-1

QD
type: SiteQuality
SIO_000300: 1.554e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.000000000000001e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.8e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10134
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.521455588887439e-5
allele num: 15334
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65516
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11410
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6400
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.4e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.86e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.7e-2

DP
type: SiteQuality
SIO_000300: 1.556294e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.582e1

VQSLOD
type: SiteQuality
SIO_000300: 2.89e0

GenotypeQuality
all individuals: 2524
bin: 3.25e1
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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bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15334
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10134
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.105378838756945e-5
allele num: 65516
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6400
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11410
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.86e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

QD
type: SiteQuality
SIO_000300: 1.582e1

MQRankSum
type: SiteQuality
SIO_000300: -1.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.89e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.18e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.556294e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.4e-1

GenotypeQuality
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bin: 9.75e1
variant carriers: 20

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11412
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6416
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 15
allele frequency: 2.28839934094099e-4
allele num: 65548
num of homozygotes: 0

African
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allele count: 4
allele frequency: 3.95335046451868e-4
allele num: 10118
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.50110518788194e-5
allele num: 15382
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.08e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.35e-1

FS
type: SiteQuality
SIO_000300: 3.237e0

QD
type: SiteQuality
SIO_000300: 1.34e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

MQ
type: SiteQuality
SIO_000300: 5.959e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.83e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.96e0

MQRankSum
type: SiteQuality
SIO_000300: -1.56e-1

DP
type: SiteQuality
SIO_000300: 1.558842e6

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11420
num of homozygotes: 0

South Asian
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allele count: 5
allele frequency: 3.253090435914119e-4
allele num: 15370
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6414
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10140
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65580
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.595e0

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.0e-2

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.063e0

MQRankSum
type: SiteQuality
SIO_000300: -3.34e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10124
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15274
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11404
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8590
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6408
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.52597204419215e-5
allele num: 65532
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.95e-1

FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -7.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -8.28e-1

QD
type: SiteQuality
SIO_000300: 7.14e0

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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bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11414
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6418
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10146
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15352
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
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European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.573170731707317e-5
allele num: 65600
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.18e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -5.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

QD
type: SiteQuality
SIO_000300: 1.49e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.71e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

DP
type: SiteQuality
SIO_000300: 1.568374e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.31e-1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4025
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 539
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15304
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65672
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10170
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6438
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.749475157452764e-4
allele num: 11432
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.09e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.36e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.24e-1

DP
type: SiteQuality
SIO_000300: 1.589328e6

MQRankSum
type: SiteQuality
SIO_000300: -6.94e-1

FS
type: SiteQuality
SIO_000300: 2.124e0

VQSLOD
type: SiteQuality
SIO_000300: 4.06e-1

QD
type: SiteQuality
SIO_000300: 9.529999999999999e0

GenotypeQuality
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bin: 7.5e0
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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bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10162
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65676
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.74737578726382e-5
allele num: 11432
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15252
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6436
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.652e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.242e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.45e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.11e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.115e1

DP
type: SiteQuality
SIO_000300: 1.596489e6

GenotypeQuality
all individuals: 1227
bin: 3.25e1
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4317
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11450
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 4.899078973153047e-4
allele num: 10206
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65750
num of homozygotes: 0

East Asian
type: Population
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: 15226
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6454
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.62e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.87e-1

QD
type: SiteQuality
SIO_000300: 1.242e1

MQRankSum
type: SiteQuality
SIO_000300: -5.580000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.92e1

VQSLOD
type: SiteQuality
SIO_000300: 1.35e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.612906e6

GenotypeQuality
all individuals: 35
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4097
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6468
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.519895431194334e-5
allele num: 65794
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10216
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15216
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 6.75e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.96e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.81e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.25e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.63e-1

FS
type: SiteQuality
SIO_000300: 2.627e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.89e0

DP
type: SiteQuality
SIO_000300: 1.621763e6

QD
type: SiteQuality
SIO_000300: 1.22e1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1318
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15234
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10222
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.519756838905775e-5
allele num: 65800
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6474
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11460
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.289e-1

DP
type: SiteQuality
SIO_000300: 1.624688e6

QD
type: SiteQuality
SIO_000300: 1.075e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.317e0

FS
type: SiteQuality
SIO_000300: 1.942e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.377e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.6e-3

MQ
type: SiteQuality
SIO_000300: 5.891e1

MQRankSum
type: SiteQuality
SIO_000300: -2.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.69e0

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: 3

GenotypeQuality
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GenotypeQuality
all individuals: 1461
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6472
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.618257985686857e-4
allele num: 11458
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65806
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10226
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15218
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.4e-3

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.626346e6

VQSLOD
type: SiteQuality
SIO_000300: 8.53e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.74e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.1e-1

FS
type: SiteQuality
SIO_000300: 2.736e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6488
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15230
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65850
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.775171065493646e-5
allele num: 10230
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.33e0

QD
type: SiteQuality
SIO_000300: 1.417e1

FS
type: SiteQuality
SIO_000300: 3.256e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.99e-1

DP
type: SiteQuality
SIO_000300: 1.631632e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.25e0

MQRankSum
type: SiteQuality
SIO_000300: 4.03e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.64e-1

MQ
type: SiteQuality
SIO_000300: 5.937e1

GenotypeQuality
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bin: 6.25e1
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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bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10244
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.538461538461539e-4
allele num: 6500
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15212
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65872
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.254e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.86e0

VQSLOD
type: SiteQuality
SIO_000300: -1.717e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.94e-1

MQ
type: SiteQuality
SIO_000300: 5.917e1

FS
type: SiteQuality
SIO_000300: 1.0147e1

DP
type: SiteQuality
SIO_000300: 1.638024e6

MQRankSum
type: SiteQuality
SIO_000300: 5.03e-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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variant carriers: 0

GenotypeQuality
all individuals: 261
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variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15200
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10250
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517911353976928e-5
allele num: 65880
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.308e0

DP
type: SiteQuality
SIO_000300: 1.640114e6

VQSLOD
type: SiteQuality
SIO_000300: -2.598e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.84e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 5.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 1.166e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.95e-1

QD
type: SiteQuality
SIO_000300: 7.96e0

GenotypeQuality
all individuals: 288
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.606765327695561e-5
allele num: 15136
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6540
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65880
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.649667e6

MQRankSum
type: SiteQuality
SIO_000300: -1.24e0

MQ
type: SiteQuality
SIO_000300: 5.924e1

QD
type: SiteQuality
SIO_000300: 9.380000000000001e0

FS
type: SiteQuality
SIO_000300: 1.992e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.72e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.870000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.770999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.870000000000001e-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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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4170
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4308
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.518741267237713e-5
allele num: 65844
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11494
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10268
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14892
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6548
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.141e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 1.421e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.53e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.92e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.75e-1

FS
type: SiteQuality
SIO_000300: 1.097e0

MQRankSum
type: SiteQuality
SIO_000300: -2.12e-1

MQ
type: SiteQuality
SIO_000300: 5.548e1

DP
type: SiteQuality
SIO_000300: 1.649101e6

GenotypeQuality
all individuals: 39
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4741
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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
all individuals: 27358
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variant carriers: 0

GenotypeQuality
all individuals: 570
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 1.947798987144527e-4
allele num: 10268
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.51846452866861e-5
allele num: 65856
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6552
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14880
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11498
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.37e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.81e0

QD
type: SiteQuality
SIO_000300: 1.179e1

DP
type: SiteQuality
SIO_000300: 1.648475e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.95e-1

MQ
type: SiteQuality
SIO_000300: 5.943e1

FS
type: SiteQuality
SIO_000300: 3.139e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.22e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.36e-1

GenotypeQuality
all individuals: 113
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 13
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 4174
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 198
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variant carriers: 0

GenotypeQuality
all individuals: 27130
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variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14836
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10272
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65848
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6552
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.2e-1

MQ
type: SiteQuality
SIO_000300: 5.552e1

MQRankSum
type: SiteQuality
SIO_000300: -3.976e0

FS
type: SiteQuality
SIO_000300: 2.4967e1

DP
type: SiteQuality
SIO_000300: 1.647417e6

VQSLOD
type: SiteQuality
SIO_000300: -3.331e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.79e-1

QD
type: SiteQuality
SIO_000300: 1.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.75e-1

GenotypeQuality
all individuals: 645
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 204
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variant carriers: 0

GenotypeQuality
all individuals: 349
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 21

GenotypeQuality
all individuals: 3244
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 590
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variant carriers: 0

GenotypeQuality
all individuals: 4744
bin: 7.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11498
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10276
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.149425287356322e-3
allele num: 870
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65832
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6552
num of homozygotes: 0

South Asian
type: Population
allele count: 23
allele frequency: 1.551328746796169e-3
allele num: 14826
num of homozygotes: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.235e1

VQSLOD
type: SiteQuality
SIO_000300: 3.2e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.14e-2

FS
type: SiteQuality
SIO_000300: 5.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.19e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.49e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -6.2e-2

DP
type: SiteQuality
SIO_000300: 1.648291e6

GenotypeQuality
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bin: 7.25e1
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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variant carriers: 0

GenotypeQuality
all individuals: 349
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variant carriers: 0

GenotypeQuality
all individuals: 1401
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11498
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14826
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65832
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.731413001167769e-5
allele num: 10276
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6552
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.235e1

MQRankSum
type: SiteQuality
SIO_000300: -6.2e-2

FS
type: SiteQuality
SIO_000300: 5.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.19e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.14e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.2e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.648291e6

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 180
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variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.735202492211838e-5
allele num: 10272
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14732
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65812
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6552
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.2e-1

FS
type: SiteQuality
SIO_000300: 3.952e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.072e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.65e0

MQRankSum
type: SiteQuality
SIO_000300: -5.03e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.644993e6

QD
type: SiteQuality
SIO_000300: 1.77e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

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
all individuals: 1422
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10266
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65714
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.158748551564311e-4
allele num: 8630
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11498
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -4.471e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.53e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.7e-2

FS
type: SiteQuality
SIO_000300: 1.427e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.185e0

DP
type: SiteQuality
SIO_000300: 1.641298e6

QD
type: SiteQuality
SIO_000300: 7.17e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.3e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 70
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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: 148

GenotypeQuality
all individuals: 882
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1559
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GenotypeQuality
all individuals: 524
bin: 3.75e1
variant carriers: 0

Other
type: Population
allele count: 3
allele frequency: 3.472222222222222e-3
allele num: 864
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.5220700152207e-4
allele num: 6570
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10264
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 84
allele frequency: 1.280019505059125e-3
allele num: 65624
num of homozygotes: 0

South Asian
type: Population
allele count: 10
allele frequency: 7.026419336706015e-4
allele num: 14232
num of homozygotes: 0

Latino
type: Population
allele count: 49
allele frequency: 4.262352122477384e-3
allele num: 11496
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

FS
type: SiteQuality
SIO_000300: 5.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.99e-1

QD
type: SiteQuality
SIO_000300: 1.24e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.145e0

VQSLOD
type: SiteQuality
SIO_000300: 4.11e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.3e-2

DP
type: SiteQuality
SIO_000300: 1.641785e6

GenotypeQuality
all individuals: 38
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4386
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25505
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 841
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1436
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9068
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 5.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65632
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.744689144416293e-5
allele num: 10262
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14274
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.951e0

MQ
type: SiteQuality
SIO_000300: 5.939e1

DP
type: SiteQuality
SIO_000300: 1.64167e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.201e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 7.73e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.61e0

GenotypeQuality
all individuals: 2777
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9090
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4879
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4432
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 5.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.525599560627327e-5
allele num: 65548
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14088
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.640861e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.1e-3

MQRankSum
type: SiteQuality
SIO_000300: -7.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.42e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.89e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.43e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.9e-2

FS
type: SiteQuality
SIO_000300: 2.359e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.609e1

GenotypeQuality
all individuals: 912
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4444
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1591
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 540
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.054087896649666e-5
allele num: 65486
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: 11502
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.167431192660551e-5
allele num: 13952
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.36e-1

FS
type: SiteQuality
SIO_000300: 2.886e0

MQ
type: SiteQuality
SIO_000300: 5.924e1

MQRankSum
type: SiteQuality
SIO_000300: -5.590000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.18e-1

DP
type: SiteQuality
SIO_000300: 1.64095e6

QD
type: SiteQuality
SIO_000300: 1.4e1

GenotypeQuality
all individuals: 206
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4897
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1591
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24891
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4443
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4335
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1453
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9105
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13952
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10250
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.52699731248473e-5
allele num: 65488
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.18e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.86e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.381e0

FS
type: SiteQuality
SIO_000300: 2.693e0

MQRankSum
type: SiteQuality
SIO_000300: 6.15e-1

QD
type: SiteQuality
SIO_000300: 1.183e1

DP
type: SiteQuality
SIO_000300: 1.640829e6

GenotypeQuality
all individuals: 304
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4337
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1456
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4905
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9094
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65456
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.25163161711385e-5
allele num: 13790
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10246
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.640202e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.95e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.06e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.073e0

MQ
type: SiteQuality
SIO_000300: 5.833e1

QD
type: SiteQuality
SIO_000300: 1.753e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.626e0

GenotypeQuality
all individuals: 59
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 280
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GenotypeQuality
all individuals: 24577
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 290
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variant carriers: 0

GenotypeQuality
all individuals: 3371
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variant carriers: 0

GenotypeQuality
all individuals: 4343
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 264
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variant carriers: 0

GenotypeQuality
all individuals: 9091
bin: 6.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65442
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10248
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13818
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.57e-1

MQ
type: SiteQuality
SIO_000300: 5.739e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.57e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.396e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.532e0

MQRankSum
type: SiteQuality
SIO_000300: -1.98e-1

QD
type: SiteQuality
SIO_000300: 1.432e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

FS
type: SiteQuality
SIO_000300: 1.7773e1

DP
type: SiteQuality
SIO_000300: 1.64051e6

GenotypeQuality
all individuals: 4374
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 299
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 281
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4983
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variant carriers: 0

GenotypeQuality
all individuals: 249
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variant carriers: 0

GenotypeQuality
all individuals: 4517
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9176
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24587
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2590
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1629
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13574
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
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: 3
allele frequency: 2.925687536571094e-4
allele num: 10254
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65388
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.8e-2

MQ
type: SiteQuality
SIO_000300: 5.958e1

DP
type: SiteQuality
SIO_000300: 1.645509e6

QD
type: SiteQuality
SIO_000300: 2.004e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.47e0

VQSLOD
type: SiteQuality
SIO_000300: -8.729e-1

FS
type: SiteQuality
SIO_000300: 1.6094e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e-1

GenotypeQuality
all individuals: 3496
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 156
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GenotypeQuality
all individuals: 5004
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variant carriers: 0

GenotypeQuality
all individuals: 493
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9209
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variant carriers: 0

GenotypeQuality
all individuals: 24475
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1652
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variant carriers: 0

GenotypeQuality
all individuals: 796
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variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 1.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10254
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13448
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.695652173913044e-5
allele num: 11500
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65334
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.649965e6

MQ
type: SiteQuality
SIO_000300: 5.969e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.731e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.18e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.0e0

FS
type: SiteQuality
SIO_000300: 2.783e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.51e-1

QD
type: SiteQuality
SIO_000300: 1.319e1

MQRankSum
type: SiteQuality
SIO_000300: -4.44e-1

GenotypeQuality
all individuals: 244
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4570
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5016
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 800
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4422
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 9219
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1519
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3506
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10258
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.529660109523664e-5
allele num: 65374
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13560
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.49e0

VQSLOD
type: SiteQuality
SIO_000300: 1.14e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.093e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.650774e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.541e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.75e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

GenotypeQuality
all individuals: 766
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4458
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 3548
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5055
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variant carriers: 0

GenotypeQuality
all individuals: 1532
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variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 4.25e1
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GenotypeQuality
all individuals: 24500
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 905
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.457938474996355e-4
allele num: 13718
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65434
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.738525730180807e-4
allele num: 11504
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10276
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.56e1

DP
type: SiteQuality
SIO_000300: 1.656078e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.96e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.59e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

VQSLOD
type: SiteQuality
SIO_000300: 3.2e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.944e0

GenotypeQuality
all individuals: 10541
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 834
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: 3

GenotypeQuality
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bin: 7.75e1
variant carriers: 1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 1

GenotypeQuality
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bin: 9.25e1
variant carriers: 1

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

African
type: Population
allele count: 1
allele frequency: 9.708737864077671e-5
allele num: 10300
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
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: 6614
num of homozygotes: 0

South Asian
type: Population
allele count: 162
allele frequency: 1.016183665788483e-2
allele num: 15942
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.530079729403237e-5
allele num: 66224
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.406e1

VQSLOD
type: SiteQuality
SIO_000300: 5.07e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.28e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.49e-2

MQ
type: SiteQuality
SIO_000300: 5.985e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.1e-1

DP
type: SiteQuality
SIO_000300: 1.900932e6

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 16
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 576
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16012
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66270
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.647526807333103e-5
allele num: 11564
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10228
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: 894
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.761e1

FS
type: SiteQuality
SIO_000300: 7.21e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.509e-1

DP
type: SiteQuality
SIO_000300: 1.898733e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.886e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.52e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.81e0

GenotypeQuality
all individuals: 3756
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 941
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30479
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2107
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
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: 10202
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508432135638218e-5
allele num: 66294
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16082
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.903078e6

MQ
type: SiteQuality
SIO_000300: 5.336e1

MQRankSum
type: SiteQuality
SIO_000300: -9.801e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.68e0

VQSLOD
type: SiteQuality
SIO_000300: -1.943e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

QD
type: SiteQuality
SIO_000300: 3.2e-1

FS
type: SiteQuality
SIO_000300: 1.1742e2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.082e0

GenotypeQuality
all individuals: 125
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 6.75e1
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: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 325
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3761
bin: 7.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.156336725254394e-4
allele num: 8648
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66302
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16110
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10152
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.63e-1

QD
type: SiteQuality
SIO_000300: 9.140000000000001e0

FS
type: SiteQuality
SIO_000300: 8.86e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.936e0

MQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

DP
type: SiteQuality
SIO_000300: 1.905398e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 6.7e-2

GenotypeQuality
all individuals: 209
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 115
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
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variant carriers: 0

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

GenotypeQuality
all individuals: 31209
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 936
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10788
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
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: 10082
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: 1.507477086348288e-5
allele num: 66336
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16300
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.237e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.828e0

QD
type: SiteQuality
SIO_000300: 1.051e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.759e0

MQ
type: SiteQuality
SIO_000300: 5.905e1

DP
type: SiteQuality
SIO_000300: 1.914367e6

FS
type: SiteQuality
SIO_000300: 3.141e0

MQRankSum
type: SiteQuality
SIO_000300: 2.81e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.57e0

GenotypeQuality
all individuals: 58
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 1.25e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 941
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66370
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.958175662218681e-5
allele num: 10042
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16390
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.917094e6

MQ
type: SiteQuality
SIO_000300: 5.986e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.47e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.28e-1

QD
type: SiteQuality
SIO_000300: 1.346e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.43e0

VQSLOD
type: SiteQuality
SIO_000300: 5.34e0