6-135752333-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135752333
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 135752333
    reference: chr 6
allele count: 1
allele frequency: 3.722176728951091e-5
allele num: 26866
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000416867
  ensembl transcript: ENST00000417892
  gene symbol: AHI1
  hgvsc: ENST00000417892.2:c.435+13A>G
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000435710
  ensembl transcript: ENST00000475846
  gene symbol: AHI1
  hgvsc: ENST00000475846.2:c.565+13A>G
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000265602
  ensembl transcript: ENST00000265602
  gene symbol: AHI1
  hgvsc: ENST00000265602.6:c.2373+13A>G
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000432167
  ensembl transcript: ENST00000531788
  gene symbol: AHI1
  hgvsc: ENST00000531788.1:c.*576+13A>G
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356774
  ensembl transcript: ENST00000367800
  gene symbol: AHI1
  hgvsc: ENST00000367800.4:c.2373+13A>G
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000388650
  ensembl transcript: ENST00000457866
  gene symbol: AHI1
  hgvsc: ENST00000457866.2:c.2373+13A>G
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356773
  ensembl transcript: ENST00000367799
  gene symbol: AHI1
  hgvsc: ENST00000367799.2:c.872+13A>G
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000322478
  ensembl transcript: ENST00000327035
  gene symbol: AHI1
  hgvsc: ENST00000327035.6:c.2373+13A>G
  variant of: http://identifiers.org/hgnc/21575
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5580
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28281
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17713
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1201
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1529
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26049
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16864
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2242
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: T
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

6-135752364-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135752364
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 135752364
    reference: chr 6
allele count: 2
allele frequency: 3.417985439382028e-5
allele num: 58514
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000416867
  ensembl transcript: ENST00000417892
  gene symbol: AHI1
  hgvsc: ENST00000417892.2:c.417C>T
  hgvsp: ENST00000417892.2:c.417C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356773
  ensembl transcript: ENST00000367799
  gene symbol: AHI1
  hgvsc: ENST00000367799.2:c.854C>T
  hgvsp: ENST00000367799.2:c.854C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000265602
  ensembl transcript: ENST00000265602
  gene symbol: AHI1
  hgvsc: ENST00000265602.6:c.2355C>T
  hgvsp: ENST00000265602.6:c.2355C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000322478
  ensembl transcript: ENST00000327035
  gene symbol: AHI1
  hgvsc: ENST00000327035.6:c.2355C>T
  hgvsp: ENST00000327035.6:c.2355C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356774
  ensembl transcript: ENST00000367800
  gene symbol: AHI1
  hgvsc: ENST00000367800.4:c.2355C>T
  hgvsp: ENST00000367800.4:c.2355C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000435710
  ensembl transcript: ENST00000475846
  gene symbol: AHI1
  hgvsc: ENST00000475846.2:c.547C>T
  hgvsp: ENST00000475846.2:c.547C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000432167
  ensembl transcript: ENST00000531788
  gene symbol: AHI1
  hgvsc: ENST00000531788.1:c.*558C>T
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000388650
  ensembl transcript: ENST00000457866
  gene symbol: AHI1
  hgvsc: ENST00000457866.2:c.2355C>T
  hgvsp: ENST00000457866.2:c.2355C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21575
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3134
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19338
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2371
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29241
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20151
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 5.75e1
  variant carriers: 0
hgvs: p.His785His
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ

6-135752371-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135752371
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 135752371
    reference: chr 6
allele count: 1
allele frequency: 1.487431206306708e-5
allele num: 67230
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000265602
  ensembl transcript: ENST00000265602
  gene symbol: AHI1
  hgvsc: ENST00000265602.6:c.2348C>T
  hgvsp: ENSP00000265602.6:p.Ser783Leu
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000416867
  ensembl transcript: ENST00000417892
  gene symbol: AHI1
  hgvsc: ENST00000417892.2:c.410C>T
  hgvsp: ENSP00000416867.2:p.Ser137Leu
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000322478
  ensembl transcript: ENST00000327035
  gene symbol: AHI1
  hgvsc: ENST00000327035.6:c.2348C>T
  hgvsp: ENSP00000322478.6:p.Ser783Leu
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000432167
  ensembl transcript: ENST00000531788
  gene symbol: AHI1
  hgvsc: ENST00000531788.1:c.*551C>T
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356773
  ensembl transcript: ENST00000367799
  gene symbol: AHI1
  hgvsc: ENST00000367799.2:c.847C>T
  hgvsp: ENSP00000356773.2:p.Ser283Leu
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000388650
  ensembl transcript: ENST00000457866
  gene symbol: AHI1
  hgvsc: ENST00000457866.2:c.2348C>T
  hgvsp: ENSP00000388650.2:p.Ser783Leu
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000435710
  ensembl transcript: ENST00000475846
  gene symbol: AHI1
  hgvsc: ENST00000475846.2:c.540C>T
  hgvsp: ENSP00000435710.1:p.Ser181Leu
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356774
  ensembl transcript: ENST00000367800
  gene symbol: AHI1
  hgvsc: ENST00000367800.4:c.2348C>T
  hgvsp: ENSP00000356774.4:p.Ser783Leu
  variant of: http://identifiers.org/hgnc/21575
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23293
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25347
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2282
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3560
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1646
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser783Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum

6-135752379-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135752379
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 135752379
    reference: chr 6
allele count: 1
allele frequency: 1.326787846623325e-5
allele num: 75370
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000432167
  ensembl transcript: ENST00000531788
  gene symbol: AHI1
  hgvsc: ENST00000531788.1:c.*543G>A
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000435710
  ensembl transcript: ENST00000475846
  gene symbol: AHI1
  hgvsc: ENST00000475846.2:c.532G>A
  hgvsp: ENST00000475846.2:c.532G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356774
  ensembl transcript: ENST00000367800
  gene symbol: AHI1
  hgvsc: ENST00000367800.4:c.2340G>A
  hgvsp: ENST00000367800.4:c.2340G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000416867
  ensembl transcript: ENST00000417892
  gene symbol: AHI1
  hgvsc: ENST00000417892.2:c.402G>A
  hgvsp: ENST00000417892.2:c.402G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000322478
  ensembl transcript: ENST00000327035
  gene symbol: AHI1
  hgvsc: ENST00000327035.6:c.2340G>A
  hgvsp: ENST00000327035.6:c.2340G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000265602
  ensembl transcript: ENST00000265602
  gene symbol: AHI1
  hgvsc: ENST00000265602.6:c.2340G>A
  hgvsp: ENST00000265602.6:c.2340G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000388650
  ensembl transcript: ENST00000457866
  gene symbol: AHI1
  hgvsc: ENST00000457866.2:c.2340G>A
  hgvsp: ENST00000457866.2:c.2340G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356773
  ensembl transcript: ENST00000367799
  gene symbol: AHI1
  hgvsc: ENST00000367799.2:c.839G>A
  hgvsp: ENST00000367799.2:c.839G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21575
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27131
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21656
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3935
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu780Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/6-135752389-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135752389
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 135752389
    reference: chr 6
allele count: 1
allele frequency: 1.218501730272457e-5
allele num: 82068
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000388650
  ensembl transcript: ENST00000457866
  gene symbol: AHI1
  hgvsc: ENST00000457866.2:c.2330T>G
  hgvsp: ENSP00000388650.2:p.Ile777Ser
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000416867
  ensembl transcript: ENST00000417892
  gene symbol: AHI1
  hgvsc: ENST00000417892.2:c.392T>G
  hgvsp: ENSP00000416867.2:p.Ile131Ser
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356773
  ensembl transcript: ENST00000367799
  gene symbol: AHI1
  hgvsc: ENST00000367799.2:c.829T>G
  hgvsp: ENSP00000356773.2:p.Ile277Ser
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000435710
  ensembl transcript: ENST00000475846
  gene symbol: AHI1
  hgvsc: ENST00000475846.2:c.522T>G
  hgvsp: ENSP00000435710.1:p.Ile175Ser
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356774
  ensembl transcript: ENST00000367800
  gene symbol: AHI1
  hgvsc: ENST00000367800.4:c.2330T>G
  hgvsp: ENSP00000356774.4:p.Ile777Ser
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000322478
  ensembl transcript: ENST00000327035
  gene symbol: AHI1
  hgvsc: ENST00000327035.6:c.2330T>G
  hgvsp: ENSP00000322478.6:p.Ile777Ser
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000265602
  ensembl transcript: ENST00000265602
  gene symbol: AHI1
  hgvsc: ENST00000265602.6:c.2330T>G
  hgvsp: ENSP00000265602.6:p.Ile777Ser
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000432167
  ensembl transcript: ENST00000531788
  gene symbol: AHI1
  hgvsc: ENST00000531788.1:c.*533T>G
  variant of: http://identifiers.org/hgnc/21575
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2003
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30093
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18631
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4301
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 796
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ile777Ser
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ

6-135752400-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135752400
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 135752400
    reference: chr 6
allele count: 0
allele frequency: 0.0e0
allele num: 85304
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000322478
  ensembl transcript: ENST00000327035
  gene symbol: AHI1
  hgvsc: ENST00000327035.6:c.2319C>T
  hgvsp: ENST00000327035.6:c.2319C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356774
  ensembl transcript: ENST00000367800
  gene symbol: AHI1
  hgvsc: ENST00000367800.4:c.2319C>T
  hgvsp: ENST00000367800.4:c.2319C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000416867
  ensembl transcript: ENST00000417892
  gene symbol: AHI1
  hgvsc: ENST00000417892.2:c.381C>T
  hgvsp: ENST00000417892.2:c.381C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000435710
  ensembl transcript: ENST00000475846
  gene symbol: AHI1
  hgvsc: ENST00000475846.2:c.511C>T
  hgvsp: ENST00000475846.2:c.511C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000432167
  ensembl transcript: ENST00000531788
  gene symbol: AHI1
  hgvsc: ENST00000531788.1:c.*522C>T
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356773
  ensembl transcript: ENST00000367799
  gene symbol: AHI1
  hgvsc: ENST00000367799.2:c.818C>T
  hgvsp: ENST00000367799.2:c.818C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000388650
  ensembl transcript: ENST00000457866
  gene symbol: AHI1
  hgvsc: ENST00000457866.2:c.2319C>T
  hgvsp: ENST00000457866.2:c.2319C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000265602
  ensembl transcript: ENST00000265602
  gene symbol: AHI1
  hgvsc: ENST00000265602.6:c.2319C>T
  hgvsp: ENST00000265602.6:c.2319C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21575
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2411
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30809
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17000
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4814
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18302
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32100
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Thr773Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

6-135752405-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135752405
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 135752405
    reference: chr 6
allele count: 1
allele frequency: 1.167378767714973e-5
allele num: 85662
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000388650
  ensembl transcript: ENST00000457866
  gene symbol: AHI1
  hgvsc: ENST00000457866.2:c.2314A>G
  hgvsp: ENSP00000388650.2:p.Asn772Asp
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000265602
  ensembl transcript: ENST00000265602
  gene symbol: AHI1
  hgvsc: ENST00000265602.6:c.2314A>G
  hgvsp: ENSP00000265602.6:p.Asn772Asp
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000432167
  ensembl transcript: ENST00000531788
  gene symbol: AHI1
  hgvsc: ENST00000531788.1:c.*517A>G
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356773
  ensembl transcript: ENST00000367799
  gene symbol: AHI1
  hgvsc: ENST00000367799.2:c.813A>G
  hgvsp: ENSP00000356773.2:p.Asn272Asp
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000435710
  ensembl transcript: ENST00000475846
  gene symbol: AHI1
  hgvsc: ENST00000475846.2:c.506A>G
  hgvsp: ENSP00000435710.1:p.Asn170Asp
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000322478
  ensembl transcript: ENST00000327035
  gene symbol: AHI1
  hgvsc: ENST00000327035.6:c.2314A>G
  hgvsp: ENSP00000322478.6:p.Asn772Asp
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000416867
  ensembl transcript: ENST00000417892
  gene symbol: AHI1
  hgvsc: ENST00000417892.2:c.376A>G
  hgvsp: ENSP00000416867.2:p.Asn126Asp
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356774
  ensembl transcript: ENST00000367800
  gene symbol: AHI1
  hgvsc: ENST00000367800.4:c.2314A>G
  hgvsp: ENSP00000356774.4:p.Asn772Asp
  variant of: http://identifiers.org/hgnc/21575
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30300
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2920
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16858
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4983
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asn772Asp
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

6-135752416-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135752416
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 135752416
    reference: chr 6
allele count: 1
allele frequency: 1.213179987382928e-5
allele num: 82428
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000265602
  ensembl transcript: ENST00000265602
  gene symbol: AHI1
  hgvsc: ENST00000265602.6:c.2303T>A
  hgvsp: ENSP00000265602.6:p.Ile768Asn
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000388650
  ensembl transcript: ENST00000457866
  gene symbol: AHI1
  hgvsc: ENST00000457866.2:c.2303T>A
  hgvsp: ENSP00000388650.2:p.Ile768Asn
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356773
  ensembl transcript: ENST00000367799
  gene symbol: AHI1
  hgvsc: ENST00000367799.2:c.802T>A
  hgvsp: ENSP00000356773.2:p.Ile268Asn
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000416867
  ensembl transcript: ENST00000417892
  gene symbol: AHI1
  hgvsc: ENST00000417892.2:c.365T>A
  hgvsp: ENSP00000416867.2:p.Ile122Asn
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000322478
  ensembl transcript: ENST00000327035
  gene symbol: AHI1
  hgvsc: ENST00000327035.6:c.2303T>A
  hgvsp: ENSP00000322478.6:p.Ile768Asn
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000435710
  ensembl transcript: ENST00000475846
  gene symbol: AHI1
  hgvsc: ENST00000475846.2:c.495T>A
  hgvsp: ENSP00000435710.1:p.Ile166Asn
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356774
  ensembl transcript: ENST00000367800
  gene symbol: AHI1
  hgvsc: ENST00000367800.4:c.2303T>A
  hgvsp: ENSP00000356774.4:p.Ile768Asn
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000432167
  ensembl transcript: ENST00000531788
  gene symbol: AHI1
  hgvsc: ENST00000531788.1:c.*506T>A
  variant of: http://identifiers.org/hgnc/21575
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25511
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18270
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5556
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5125
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2240
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1873
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27556
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 833
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ile768Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

http://identifiers.org/exac.variant/6-135752420-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135752420
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 135752420
    reference: chr 6
allele count: 2
allele frequency: 2.476780185758514e-5
allele num: 80750
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000388650
  ensembl transcript: ENST00000457866
  gene symbol: AHI1
  hgvsc: ENST00000457866.2:c.2299G>T
  hgvsp: ENSP00000388650.2:p.Val767Leu
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000265602
  ensembl transcript: ENST00000265602
  gene symbol: AHI1
  hgvsc: ENST00000265602.6:c.2299G>T
  hgvsp: ENSP00000265602.6:p.Val767Leu
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000416867
  ensembl transcript: ENST00000417892
  gene symbol: AHI1
  hgvsc: ENST00000417892.2:c.361G>T
  hgvsp: ENSP00000416867.2:p.Val121Leu
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000435710
  ensembl transcript: ENST00000475846
  gene symbol: AHI1
  hgvsc: ENST00000475846.2:c.491G>T
  hgvsp: ENSP00000435710.1:p.Val165Leu
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000322478
  ensembl transcript: ENST00000327035
  gene symbol: AHI1
  hgvsc: ENST00000327035.6:c.2299G>T
  hgvsp: ENSP00000322478.6:p.Val767Leu
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000432167
  ensembl transcript: ENST00000531788
  gene symbol: AHI1
  hgvsc: ENST00000531788.1:c.*502G>T
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356774
  ensembl transcript: ENST00000367800
  gene symbol: AHI1
  hgvsc: ENST00000367800.4:c.2299G>T
  hgvsp: ENSP00000356774.4:p.Val767Leu
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356773
  ensembl transcript: ENST00000367799
  gene symbol: AHI1
  hgvsc: ENST00000367799.2:c.798G>T
  hgvsp: ENSP00000356773.2:p.Val267Leu
  variant of: http://identifiers.org/hgnc/21575
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6636
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23311
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18925
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5240
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1755
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 958
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25457
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Val767Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum

6-135752421-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135752421
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 135752421
    reference: chr 6
allele count: 1
allele frequency: 1.24495792042229e-5
allele num: 80324
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000388650
  ensembl transcript: ENST00000457866
  gene symbol: AHI1
  hgvsc: ENST00000457866.2:c.2298G>A
  hgvsp: ENST00000457866.2:c.2298G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000435710
  ensembl transcript: ENST00000475846
  gene symbol: AHI1
  hgvsc: ENST00000475846.2:c.490G>A
  hgvsp: ENST00000475846.2:c.490G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000322478
  ensembl transcript: ENST00000327035
  gene symbol: AHI1
  hgvsc: ENST00000327035.6:c.2298G>A
  hgvsp: ENST00000327035.6:c.2298G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000432167
  ensembl transcript: ENST00000531788
  gene symbol: AHI1
  hgvsc: ENST00000531788.1:c.*501G>A
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356773
  ensembl transcript: ENST00000367799
  gene symbol: AHI1
  hgvsc: ENST00000367799.2:c.797G>A
  hgvsp: ENST00000367799.2:c.797G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000416867
  ensembl transcript: ENST00000417892
  gene symbol: AHI1
  hgvsc: ENST00000417892.2:c.360G>A
  hgvsp: ENST00000417892.2:c.360G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000265602
  ensembl transcript: ENST00000265602
  gene symbol: AHI1
  hgvsc: ENST00000265602.6:c.2298G>A
  hgvsp: ENST00000265602.6:c.2298G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356774
  ensembl transcript: ENST00000367800
  gene symbol: AHI1
  hgvsc: ENST00000367800.4:c.2298G>A
  hgvsp: ENST00000367800.4:c.2298G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21575
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 22833
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6936
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5200
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19081
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1001
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23569
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1215
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly766Gly
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP

6-135752425-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135752425
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 135752425
    reference: chr 6
allele count: 12
allele frequency: 1.529675708749745e-4
allele num: 78448
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356773
  ensembl transcript: ENST00000367799
  gene symbol: AHI1
  hgvsc: ENST00000367799.2:c.793C>T
  hgvsp: ENSP00000356773.2:p.Thr265Ile
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000416867
  ensembl transcript: ENST00000417892
  gene symbol: AHI1
  hgvsc: ENST00000417892.2:c.356C>T
  hgvsp: ENSP00000416867.2:p.Thr119Ile
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356774
  ensembl transcript: ENST00000367800
  gene symbol: AHI1
  hgvsc: ENST00000367800.4:c.2294C>T
  hgvsp: ENSP00000356774.4:p.Thr765Ile
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000265602
  ensembl transcript: ENST00000265602
  gene symbol: AHI1
  hgvsc: ENST00000265602.6:c.2294C>T
  hgvsp: ENSP00000265602.6:p.Thr765Ile
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000435710
  ensembl transcript: ENST00000475846
  gene symbol: AHI1
  hgvsc: ENST00000475846.2:c.486C>T
  hgvsp: ENSP00000435710.1:p.Thr163Ile
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000432167
  ensembl transcript: ENST00000531788
  gene symbol: AHI1
  hgvsc: ENST00000531788.1:c.*497C>T
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000322478
  ensembl transcript: ENST00000327035
  gene symbol: AHI1
  hgvsc: ENST00000327035.6:c.2294C>T
  hgvsp: ENSP00000322478.6:p.Thr765Ile
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000388650
  ensembl transcript: ENST00000457866
  gene symbol: AHI1
  hgvsc: ENST00000457866.2:c.2294C>T
  hgvsp: ENSP00000388650.2:p.Thr765Ile
  variant of: http://identifiers.org/hgnc/21575
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5032
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19816
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20907
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8043
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23118
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1395
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr765Ile
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

6-135752452-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135752452
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 135752452
    reference: chr 6
allele count: 1
allele frequency: 1.533742331288344e-5
allele num: 65200
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000435710
  ensembl transcript: ENST00000475846
  gene symbol: AHI1
  hgvsc: ENST00000475846.2:c.459G>C
  hgvsp: ENSP00000435710.1:p.Gly154Ala
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356773
  ensembl transcript: ENST00000367799
  gene symbol: AHI1
  hgvsc: ENST00000367799.2:c.766G>C
  hgvsp: ENSP00000356773.2:p.Gly256Ala
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000265602
  ensembl transcript: ENST00000265602
  gene symbol: AHI1
  hgvsc: ENST00000265602.6:c.2267G>C
  hgvsp: ENSP00000265602.6:p.Gly756Ala
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356774
  ensembl transcript: ENST00000367800
  gene symbol: AHI1
  hgvsc: ENST00000367800.4:c.2267G>C
  hgvsp: ENSP00000356774.4:p.Gly756Ala
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000416867
  ensembl transcript: ENST00000417892
  gene symbol: AHI1
  hgvsc: ENST00000417892.2:c.329G>C
  hgvsp: ENSP00000416867.2:p.Gly110Ala
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000388650
  ensembl transcript: ENST00000457866
  gene symbol: AHI1
  hgvsc: ENST00000457866.2:c.2267G>C
  hgvsp: ENSP00000388650.2:p.Gly756Ala
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000322478
  ensembl transcript: ENST00000327035
  gene symbol: AHI1
  hgvsc: ENST00000327035.6:c.2267G>C
  hgvsp: ENSP00000322478.6:p.Gly756Ala
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000432167
  ensembl transcript: ENST00000531788
  gene symbol: AHI1
  hgvsc: ENST00000531788.1:c.*470G>C
  variant of: http://identifiers.org/hgnc/21575
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14323
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3298
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10028
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3856
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23483
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 715
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2385
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 945
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly756Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

6-135752478-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135752478
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 135752478
    reference: chr 6
allele count: 1
allele frequency: 2.075033200531208e-5
allele num: 48192
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000416867
  ensembl transcript: ENST00000417892
  gene symbol: AHI1
  hgvsc: ENST00000417892.2:c.329-26G>A
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000265602
  ensembl transcript: ENST00000265602
  gene symbol: AHI1
  hgvsc: ENST00000265602.6:c.2267-26G>A
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000322478
  ensembl transcript: ENST00000327035
  gene symbol: AHI1
  hgvsc: ENST00000327035.6:c.2267-26G>A
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000435710
  ensembl transcript: ENST00000475846
  gene symbol: AHI1
  hgvsc: ENST00000475846.2:c.459-26G>A
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356773
  ensembl transcript: ENST00000367799
  gene symbol: AHI1
  hgvsc: ENST00000367799.2:c.766-26G>A
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000388650
  ensembl transcript: ENST00000457866
  gene symbol: AHI1
  hgvsc: ENST00000457866.2:c.2267-26G>A
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356774
  ensembl transcript: ENST00000367800
  gene symbol: AHI1
  hgvsc: ENST00000367800.4:c.2267-26G>A
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000432167
  ensembl transcript: ENST00000531788
  gene symbol: AHI1
  hgvsc: ENST00000531788.1:c.*470-26G>A
  variant of: http://identifiers.org/hgnc/21575
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11772
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12238
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23732
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2025
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4406
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2186
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2951
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2740
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5095
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11967
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD

6-135752482-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135752482
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 135752482
    reference: chr 6
allele count: 0
allele frequency: 0.0e0
allele num: 46622
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000432167
  ensembl transcript: ENST00000531788
  gene symbol: AHI1
  hgvsc: ENST00000531788.1:c.*470-30A>G
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000435710
  ensembl transcript: ENST00000475846
  gene symbol: AHI1
  hgvsc: ENST00000475846.2:c.459-30A>G
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356773
  ensembl transcript: ENST00000367799
  gene symbol: AHI1
  hgvsc: ENST00000367799.2:c.766-30A>G
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000388650
  ensembl transcript: ENST00000457866
  gene symbol: AHI1
  hgvsc: ENST00000457866.2:c.2267-30A>G
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356774
  ensembl transcript: ENST00000367800
  gene symbol: AHI1
  hgvsc: ENST00000367800.4:c.2267-30A>G
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000265602
  ensembl transcript: ENST00000265602
  gene symbol: AHI1
  hgvsc: ENST00000265602.6:c.2267-30A>G
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000416867
  ensembl transcript: ENST00000417892
  gene symbol: AHI1
  hgvsc: ENST00000417892.2:c.329-30A>G
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000322478
  ensembl transcript: ENST00000327035
  gene symbol: AHI1
  hgvsc: ENST00000327035.6:c.2267-30A>G
  variant of: http://identifiers.org/hgnc/21575
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2248
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11579
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12560
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2100
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23794
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4036
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1290
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4205
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2582
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3128
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4680
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12819
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

6-135752486-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135752486
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 135752486
    reference: chr 6
allele count: 1
allele frequency: 2.229853275654462e-5
allele num: 44846
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000416867
  ensembl transcript: ENST00000417892
  gene symbol: AHI1
  hgvsc: ENST00000417892.2:c.329-34A>G
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356773
  ensembl transcript: ENST00000367799
  gene symbol: AHI1
  hgvsc: ENST00000367799.2:c.766-34A>G
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000265602
  ensembl transcript: ENST00000265602
  gene symbol: AHI1
  hgvsc: ENST00000265602.6:c.2267-34A>G
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000388650
  ensembl transcript: ENST00000457866
  gene symbol: AHI1
  hgvsc: ENST00000457866.2:c.2267-34A>G
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000435710
  ensembl transcript: ENST00000475846
  gene symbol: AHI1
  hgvsc: ENST00000475846.2:c.459-34A>G
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000432167
  ensembl transcript: ENST00000531788
  gene symbol: AHI1
  hgvsc: ENST00000531788.1:c.*470-34A>G
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356774
  ensembl transcript: ENST00000367800
  gene symbol: AHI1
  hgvsc: ENST00000367800.4:c.2267-34A>G
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000322478
  ensembl transcript: ENST00000327035
  gene symbol: AHI1
  hgvsc: ENST00000327035.6:c.2267-34A>G
  variant of: http://identifiers.org/hgnc/21575
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10830
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2660
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1984
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23940
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3577
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13234
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2725
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2644
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3829
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4106
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD

6-135754121-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135754121
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 135754121
    reference: chr 6
allele count: 4
allele frequency: 3.37490086228717e-5
allele num: 118522
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000416867
  ensembl transcript: ENST00000417892
  gene symbol: AHI1
  hgvsc: ENST00000417892.2:c.328+44T>C
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000388650
  ensembl transcript: ENST00000457866
  gene symbol: AHI1
  hgvsc: ENST00000457866.2:c.2266+44T>C
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000435710
  ensembl transcript: ENST00000475846
  gene symbol: AHI1
  hgvsc: ENST00000475846.2:c.458+44T>C
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356774
  ensembl transcript: ENST00000367800
  gene symbol: AHI1
  hgvsc: ENST00000367800.4:c.2266+44T>C
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356773
  ensembl transcript: ENST00000367799
  gene symbol: AHI1
  hgvsc: ENST00000367799.2:c.765+44T>C
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000265602
  ensembl transcript: ENST00000265602
  gene symbol: AHI1
  hgvsc: ENST00000265602.6:c.2266+44T>C
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000322478
  ensembl transcript: ENST00000327035
  gene symbol: AHI1
  hgvsc: ENST00000327035.6:c.2266+44T>C
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000432167
  ensembl transcript: ENST00000531788
  gene symbol: AHI1
  hgvsc: ENST00000531788.1:c.*469+44T>C
  variant of: http://identifiers.org/hgnc/21575
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18471
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6614
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23547
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4555
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3206
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 757
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1102
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1174
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5608
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP

6-135754125-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135754125
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 135754125
    reference: chr 6
allele count: 1
allele frequency: 8.430139434506248e-6
allele num: 118622
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000388650
  ensembl transcript: ENST00000457866
  gene symbol: AHI1
  hgvsc: ENST00000457866.2:c.2266+40A>G
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000322478
  ensembl transcript: ENST00000327035
  gene symbol: AHI1
  hgvsc: ENST00000327035.6:c.2266+40A>G
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000416867
  ensembl transcript: ENST00000417892
  gene symbol: AHI1
  hgvsc: ENST00000417892.2:c.328+40A>G
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000432167
  ensembl transcript: ENST00000531788
  gene symbol: AHI1
  hgvsc: ENST00000531788.1:c.*469+40A>G
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000265602
  ensembl transcript: ENST00000265602
  gene symbol: AHI1
  hgvsc: ENST00000265602.6:c.2266+40A>G
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356774
  ensembl transcript: ENST00000367800
  gene symbol: AHI1
  hgvsc: ENST00000367800.4:c.2266+40A>G
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000435710
  ensembl transcript: ENST00000475846
  gene symbol: AHI1
  hgvsc: ENST00000475846.2:c.458+40A>G
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356773
  ensembl transcript: ENST00000367799
  gene symbol: AHI1
  hgvsc: ENST00000367799.2:c.765+40A>G
  variant of: http://identifiers.org/hgnc/21575
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2787
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23977
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20347
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2677
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6649
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1162
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42396
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1057
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/6-135754126-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135754126
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 135754126
    reference: chr 6
allele count: 1
allele frequency: 8.43469019382918e-6
allele num: 118558
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356774
  ensembl transcript: ENST00000367800
  gene symbol: AHI1
  hgvsc: ENST00000367800.4:c.2266+39G>T
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000416867
  ensembl transcript: ENST00000417892
  gene symbol: AHI1
  hgvsc: ENST00000417892.2:c.328+39G>T
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000435710
  ensembl transcript: ENST00000475846
  gene symbol: AHI1
  hgvsc: ENST00000475846.2:c.458+39G>T
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356773
  ensembl transcript: ENST00000367799
  gene symbol: AHI1
  hgvsc: ENST00000367799.2:c.765+39G>T
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000322478
  ensembl transcript: ENST00000327035
  gene symbol: AHI1
  hgvsc: ENST00000327035.6:c.2266+39G>T
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000388650
  ensembl transcript: ENST00000457866
  gene symbol: AHI1
  hgvsc: ENST00000457866.2:c.2266+39G>T
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000265602
  ensembl transcript: ENST00000265602
  gene symbol: AHI1
  hgvsc: ENST00000265602.6:c.2266+39G>T
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000432167
  ensembl transcript: ENST00000531788
  gene symbol: AHI1
  hgvsc: ENST00000531788.1:c.*469+39G>T
  variant of: http://identifiers.org/hgnc/21575
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2606
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20658
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6717
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2268
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24190
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1199
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 775
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42594
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 954
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1390
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1118
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP

6-135754136-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135754136
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 135754136
    reference: chr 6
allele count: 51
allele frequency: 4.259584064144325e-4
allele num: 119730
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000435710
  ensembl transcript: ENST00000475846
  gene symbol: AHI1
  hgvsc: ENST00000475846.2:c.458+29G>A
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000265602
  ensembl transcript: ENST00000265602
  gene symbol: AHI1
  hgvsc: ENST00000265602.6:c.2266+29G>A
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000322478
  ensembl transcript: ENST00000327035
  gene symbol: AHI1
  hgvsc: ENST00000327035.6:c.2266+29G>A
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000416867
  ensembl transcript: ENST00000417892
  gene symbol: AHI1
  hgvsc: ENST00000417892.2:c.328+29G>A
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356773
  ensembl transcript: ENST00000367799
  gene symbol: AHI1
  hgvsc: ENST00000367799.2:c.765+29G>A
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356774
  ensembl transcript: ENST00000367800
  gene symbol: AHI1
  hgvsc: ENST00000367800.4:c.2266+29G>A
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000388650
  ensembl transcript: ENST00000457866
  gene symbol: AHI1
  hgvsc: ENST00000457866.2:c.2266+29G>A
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000432167
  ensembl transcript: ENST00000531788
  gene symbol: AHI1
  hgvsc: ENST00000531788.1:c.*469+29G>A
  variant of: http://identifiers.org/hgnc/21575
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25318
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6961
  bin: 3.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23917
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 4.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5830
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 1
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff

6-135754156-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135754156
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 135754156
    reference: chr 6
allele count: 3
allele frequency: 2.49012251402769e-5
allele num: 120476
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356773
  ensembl transcript: ENST00000367799
  gene symbol: AHI1
  hgvsc: ENST00000367799.2:c.765+9G>A
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000432167
  ensembl transcript: ENST00000531788
  gene symbol: AHI1
  hgvsc: ENST00000531788.1:c.*469+9G>A
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000265602
  ensembl transcript: ENST00000265602
  gene symbol: AHI1
  hgvsc: ENST00000265602.6:c.2266+9G>A
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000388650
  ensembl transcript: ENST00000457866
  gene symbol: AHI1
  hgvsc: ENST00000457866.2:c.2266+9G>A
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000322478
  ensembl transcript: ENST00000327035
  gene symbol: AHI1
  hgvsc: ENST00000327035.6:c.2266+9G>A
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000416867
  ensembl transcript: ENST00000417892
  gene symbol: AHI1
  hgvsc: ENST00000417892.2:c.328+9G>A
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356774
  ensembl transcript: ENST00000367800
  gene symbol: AHI1
  hgvsc: ENST00000367800.4:c.2266+9G>A
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000435710
  ensembl transcript: ENST00000475846
  gene symbol: AHI1
  hgvsc: ENST00000475846.2:c.458+9G>A
  variant of: http://identifiers.org/hgnc/21575
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24333
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25789
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7050
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49125
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1069
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: Latino
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

6-135754161-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135754161
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 135754161
    reference: chr 6
allele count: 1
allele frequency: 8.29476268683953e-6
allele num: 120558
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000432167
  ensembl transcript: ENST00000531788
  gene symbol: AHI1
  hgvsc: ENST00000531788.1:c.*469+4T>C
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000435710
  ensembl transcript: ENST00000475846
  gene symbol: AHI1
  hgvsc: ENST00000475846.2:c.458+4T>C
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000388650
  ensembl transcript: ENST00000457866
  gene symbol: AHI1
  hgvsc: ENST00000457866.2:c.2266+4T>C
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000416867
  ensembl transcript: ENST00000417892
  gene symbol: AHI1
  hgvsc: ENST00000417892.2:c.328+4T>C
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000322478
  ensembl transcript: ENST00000327035
  gene symbol: AHI1
  hgvsc: ENST00000327035.6:c.2266+4T>C
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356773
  ensembl transcript: ENST00000367799
  gene symbol: AHI1
  hgvsc: ENST00000367799.2:c.765+4T>C
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000265602
  ensembl transcript: ENST00000265602
  gene symbol: AHI1
  hgvsc: ENST00000265602.6:c.2266+4T>C
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356774
  ensembl transcript: ENST00000367800
  gene symbol: AHI1
  hgvsc: ENST00000367800.4:c.2266+4T>C
  variant of: http://identifiers.org/hgnc/21575
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7044
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25856
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24336
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5915
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
hgvs: c.2266+4T>C
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: African
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP

6-135754164-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135754164
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 135754164
    reference: chr 6
allele count: 1
allele frequency: 8.294074713025015e-6
allele num: 120568
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000435710
  ensembl transcript: ENST00000475846
  gene symbol: AHI1
  hgvsc: ENST00000475846.2:c.458+1G>A
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356774
  ensembl transcript: ENST00000367800
  gene symbol: AHI1
  hgvsc: ENST00000367800.4:c.2266+1G>A
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000388650
  ensembl transcript: ENST00000457866
  gene symbol: AHI1
  hgvsc: ENST00000457866.2:c.2266+1G>A
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356773
  ensembl transcript: ENST00000367799
  gene symbol: AHI1
  hgvsc: ENST00000367799.2:c.765+1G>A
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000416867
  ensembl transcript: ENST00000417892
  gene symbol: AHI1
  hgvsc: ENST00000417892.2:c.328+1G>A
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000322478
  ensembl transcript: ENST00000327035
  gene symbol: AHI1
  hgvsc: ENST00000327035.6:c.2266+1G>A
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000265602
  ensembl transcript: ENST00000265602
  gene symbol: AHI1
  hgvsc: ENST00000265602.6:c.2266+1G>A
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000432167
  ensembl transcript: ENST00000531788
  gene symbol: AHI1
  hgvsc: ENST00000531788.1:c.*469+1G>A
  variant of: http://identifiers.org/hgnc/21575
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25868
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7046
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24332
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
hgvs: c.2266+1G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/6-135754165-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135754165
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 135754165
    reference: chr 6
allele count: 1
allele frequency: 8.294074713025015e-6
allele num: 120568
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356774
  ensembl transcript: ENST00000367800
  gene symbol: AHI1
  hgvsc: ENST00000367800.4:c.2266G>T
  hgvsp: ENSP00000356774.4:p.Gly756Cys
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000265602
  ensembl transcript: ENST00000265602
  gene symbol: AHI1
  hgvsc: ENST00000265602.6:c.2266G>T
  hgvsp: ENSP00000265602.6:p.Gly756Cys
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000432167
  ensembl transcript: ENST00000531788
  gene symbol: AHI1
  hgvsc: ENST00000531788.1:c.*469G>T
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000388650
  ensembl transcript: ENST00000457866
  gene symbol: AHI1
  hgvsc: ENST00000457866.2:c.2266G>T
  hgvsp: ENSP00000388650.2:p.Gly756Cys
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000416867
  ensembl transcript: ENST00000417892
  gene symbol: AHI1
  hgvsc: ENST00000417892.2:c.328G>T
  hgvsp: ENSP00000416867.2:p.Gly110Cys
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000435710
  ensembl transcript: ENST00000475846
  gene symbol: AHI1
  hgvsc: ENST00000475846.2:c.458G>T
  hgvsp: ENSP00000435710.1:p.Gly154Cys
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000322478
  ensembl transcript: ENST00000327035
  gene symbol: AHI1
  hgvsc: ENST00000327035.6:c.2266G>T
  hgvsp: ENSP00000322478.6:p.Gly756Cys
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356773
  ensembl transcript: ENST00000367799
  gene symbol: AHI1
  hgvsc: ENST00000367799.2:c.765G>T
  hgvsp: ENSP00000356773.2:p.Gly256Cys
  variant of: http://identifiers.org/hgnc/21575
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24323
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25878
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7051
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5913
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly756Cys
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

6-135754165-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135754165
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 135754165
    reference: chr 6
allele count: 2
allele frequency: 1.658814942605003e-5
allele num: 120568
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356773
  ensembl transcript: ENST00000367799
  gene symbol: AHI1
  hgvsc: ENST00000367799.2:c.765G>A
  hgvsp: ENSP00000356773.2:p.Gly256Ser
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000265602
  ensembl transcript: ENST00000265602
  gene symbol: AHI1
  hgvsc: ENST00000265602.6:c.2266G>A
  hgvsp: ENSP00000265602.6:p.Gly756Ser
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356774
  ensembl transcript: ENST00000367800
  gene symbol: AHI1
  hgvsc: ENST00000367800.4:c.2266G>A
  hgvsp: ENSP00000356774.4:p.Gly756Ser
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000388650
  ensembl transcript: ENST00000457866
  gene symbol: AHI1
  hgvsc: ENST00000457866.2:c.2266G>A
  hgvsp: ENSP00000388650.2:p.Gly756Ser
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000322478
  ensembl transcript: ENST00000327035
  gene symbol: AHI1
  hgvsc: ENST00000327035.6:c.2266G>A
  hgvsp: ENSP00000322478.6:p.Gly756Ser
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000416867
  ensembl transcript: ENST00000417892
  gene symbol: AHI1
  hgvsc: ENST00000417892.2:c.328G>A
  hgvsp: ENSP00000416867.2:p.Gly110Ser
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000435710
  ensembl transcript: ENST00000475846
  gene symbol: AHI1
  hgvsc: ENST00000475846.2:c.458G>A
  hgvsp: ENSP00000435710.1:p.Gly154Ser
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000432167
  ensembl transcript: ENST00000531788
  gene symbol: AHI1
  hgvsc: ENST00000531788.1:c.*469G>A
  variant of: http://identifiers.org/hgnc/21575
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25878
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24323
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7051
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly756Ser
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: Latino
reference allele: C
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

6-135754171-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135754171
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 135754171
    reference: chr 6
allele count: 1
allele frequency: 8.290636555074699e-6
allele num: 120618
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356773
  ensembl transcript: ENST00000367799
  gene symbol: AHI1
  hgvsc: ENST00000367799.2:c.759A>G
  hgvsp: ENSP00000356773.2:p.Thr254Ala
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000416867
  ensembl transcript: ENST00000417892
  gene symbol: AHI1
  hgvsc: ENST00000417892.2:c.322A>G
  hgvsp: ENSP00000416867.2:p.Thr108Ala
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000435710
  ensembl transcript: ENST00000475846
  gene symbol: AHI1
  hgvsc: ENST00000475846.2:c.452A>G
  hgvsp: ENSP00000435710.1:p.Thr152Ala
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000388650
  ensembl transcript: ENST00000457866
  gene symbol: AHI1
  hgvsc: ENST00000457866.2:c.2260A>G
  hgvsp: ENSP00000388650.2:p.Thr754Ala
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000432167
  ensembl transcript: ENST00000531788
  gene symbol: AHI1
  hgvsc: ENST00000531788.1:c.*463A>G
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000265602
  ensembl transcript: ENST00000265602
  gene symbol: AHI1
  hgvsc: ENST00000265602.6:c.2260A>G
  hgvsp: ENSP00000265602.6:p.Thr754Ala
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000322478
  ensembl transcript: ENST00000327035
  gene symbol: AHI1
  hgvsc: ENST00000327035.6:c.2260A>G
  hgvsp: ENSP00000322478.6:p.Thr754Ala
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356774
  ensembl transcript: ENST00000367800
  gene symbol: AHI1
  hgvsc: ENST00000367800.4:c.2260A>G
  hgvsp: ENSP00000356774.4:p.Thr754Ala
  variant of: http://identifiers.org/hgnc/21575
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24335
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25910
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7045
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49296
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Thr754Ala
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

6-135754178-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135754178
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 135754178
    reference: chr 6
allele count: 1
allele frequency: 8.28775070445881e-6
allele num: 120660
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356774
  ensembl transcript: ENST00000367800
  gene symbol: AHI1
  hgvsc: ENST00000367800.4:c.2253T>C
  hgvsp: ENST00000367800.4:c.2253T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000416867
  ensembl transcript: ENST00000417892
  gene symbol: AHI1
  hgvsc: ENST00000417892.2:c.315T>C
  hgvsp: ENST00000417892.2:c.315T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000388650
  ensembl transcript: ENST00000457866
  gene symbol: AHI1
  hgvsc: ENST00000457866.2:c.2253T>C
  hgvsp: ENST00000457866.2:c.2253T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000432167
  ensembl transcript: ENST00000531788
  gene symbol: AHI1
  hgvsc: ENST00000531788.1:c.*456T>C
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000435710
  ensembl transcript: ENST00000475846
  gene symbol: AHI1
  hgvsc: ENST00000475846.2:c.445T>C
  hgvsp: ENST00000475846.2:c.445T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000265602
  ensembl transcript: ENST00000265602
  gene symbol: AHI1
  hgvsc: ENST00000265602.6:c.2253T>C
  hgvsp: ENST00000265602.6:c.2253T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356773
  ensembl transcript: ENST00000367799
  gene symbol: AHI1
  hgvsc: ENST00000367799.2:c.752T>C
  hgvsp: ENST00000367799.2:c.752T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000322478
  ensembl transcript: ENST00000327035
  gene symbol: AHI1
  hgvsc: ENST00000327035.6:c.2253T>C
  hgvsp: ENST00000327035.6:c.2253T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21575
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7058
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24345
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25924
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1070
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Cys751Cys
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP

6-135754188-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135754188
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 135754188
    reference: chr 6
allele count: 1
allele frequency: 8.285965232089886e-6
allele num: 120686
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000322478
  ensembl transcript: ENST00000327035
  gene symbol: AHI1
  hgvsc: ENST00000327035.6:c.2243A>G
  hgvsp: ENSP00000322478.6:p.Asn748Ser
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356774
  ensembl transcript: ENST00000367800
  gene symbol: AHI1
  hgvsc: ENST00000367800.4:c.2243A>G
  hgvsp: ENSP00000356774.4:p.Asn748Ser
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000432167
  ensembl transcript: ENST00000531788
  gene symbol: AHI1
  hgvsc: ENST00000531788.1:c.*446A>G
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000416867
  ensembl transcript: ENST00000417892
  gene symbol: AHI1
  hgvsc: ENST00000417892.2:c.305A>G
  hgvsp: ENSP00000416867.2:p.Asn102Ser
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356773
  ensembl transcript: ENST00000367799
  gene symbol: AHI1
  hgvsc: ENST00000367799.2:c.742A>G
  hgvsp: ENSP00000356773.2:p.Asn248Ser
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000388650
  ensembl transcript: ENST00000457866
  gene symbol: AHI1
  hgvsc: ENST00000457866.2:c.2243A>G
  hgvsp: ENSP00000388650.2:p.Asn748Ser
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000435710
  ensembl transcript: ENST00000475846
  gene symbol: AHI1
  hgvsc: ENST00000475846.2:c.435A>G
  hgvsp: ENSP00000435710.1:p.Asn146Ser
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000265602
  ensembl transcript: ENST00000265602
  gene symbol: AHI1
  hgvsc: ENST00000265602.6:c.2243A>G
  hgvsp: ENSP00000265602.6:p.Asn748Ser
  variant of: http://identifiers.org/hgnc/21575
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25944
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24354
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7058
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49370
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5908
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asn748Ser
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: DP

6-135754192-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135754192
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 135754192
    reference: chr 6
allele count: 2
allele frequency: 1.657055743355207e-5
allele num: 120696
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000416867
  ensembl transcript: ENST00000417892
  gene symbol: AHI1
  hgvsc: ENST00000417892.2:c.301A>G
  hgvsp: ENSP00000416867.2:p.Ile101Val
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000388650
  ensembl transcript: ENST00000457866
  gene symbol: AHI1
  hgvsc: ENST00000457866.2:c.2239A>G
  hgvsp: ENSP00000388650.2:p.Ile747Val
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356774
  ensembl transcript: ENST00000367800
  gene symbol: AHI1
  hgvsc: ENST00000367800.4:c.2239A>G
  hgvsp: ENSP00000356774.4:p.Ile747Val
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000432167
  ensembl transcript: ENST00000531788
  gene symbol: AHI1
  hgvsc: ENST00000531788.1:c.*442A>G
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000265602
  ensembl transcript: ENST00000265602
  gene symbol: AHI1
  hgvsc: ENST00000265602.6:c.2239A>G
  hgvsp: ENSP00000265602.6:p.Ile747Val
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356773
  ensembl transcript: ENST00000367799
  gene symbol: AHI1
  hgvsc: ENST00000367799.2:c.738A>G
  hgvsp: ENSP00000356773.2:p.Ile247Val
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000435710
  ensembl transcript: ENST00000475846
  gene symbol: AHI1
  hgvsc: ENST00000475846.2:c.431A>G
  hgvsp: ENSP00000435710.1:p.Ile145Val
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000322478
  ensembl transcript: ENST00000327035
  gene symbol: AHI1
  hgvsc: ENST00000327035.6:c.2239A>G
  hgvsp: ENSP00000322478.6:p.Ile747Val
  variant of: http://identifiers.org/hgnc/21575
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24360
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7061
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25940
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5910
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ile747Val
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum

6-135754200-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135754200
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 135754200
    reference: chr 6
allele count: 10
allele frequency: 8.284317786430287e-5
allele num: 120710
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000435710
  ensembl transcript: ENST00000475846
  gene symbol: AHI1
  hgvsc: ENST00000475846.2:c.423A>G
  hgvsp: ENSP00000435710.1:p.Lys142Arg
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000265602
  ensembl transcript: ENST00000265602
  gene symbol: AHI1
  hgvsc: ENST00000265602.6:c.2231A>G
  hgvsp: ENSP00000265602.6:p.Lys744Arg
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000388650
  ensembl transcript: ENST00000457866
  gene symbol: AHI1
  hgvsc: ENST00000457866.2:c.2231A>G
  hgvsp: ENSP00000388650.2:p.Lys744Arg
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000416867
  ensembl transcript: ENST00000417892
  gene symbol: AHI1
  hgvsc: ENST00000417892.2:c.293A>G
  hgvsp: ENSP00000416867.2:p.Lys98Arg
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000432167
  ensembl transcript: ENST00000531788
  gene symbol: AHI1
  hgvsc: ENST00000531788.1:c.*434A>G
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356774
  ensembl transcript: ENST00000367800
  gene symbol: AHI1
  hgvsc: ENST00000367800.4:c.2231A>G
  hgvsp: ENSP00000356774.4:p.Lys744Arg
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356773
  ensembl transcript: ENST00000367799
  gene symbol: AHI1
  hgvsc: ENST00000367799.2:c.730A>G
  hgvsp: ENSP00000356773.2:p.Lys244Arg
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000322478
  ensembl transcript: ENST00000327035
  gene symbol: AHI1
  hgvsc: ENST00000327035.6:c.2231A>G
  hgvsp: ENSP00000322478.6:p.Lys744Arg
  variant of: http://identifiers.org/hgnc/21575
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7060
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25944
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24360
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1148
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1063
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Lys744Arg
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/6-135754205-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135754205
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 135754205
    reference: chr 6
allele count: 1
allele frequency: 8.283906027370025e-6
allele num: 120716
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000432167
  ensembl transcript: ENST00000531788
  gene symbol: AHI1
  hgvsc: ENST00000531788.1:c.*429T>G
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000322478
  ensembl transcript: ENST00000327035
  gene symbol: AHI1
  hgvsc: ENST00000327035.6:c.2226T>G
  hgvsp: ENST00000327035.6:c.2226T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000435710
  ensembl transcript: ENST00000475846
  gene symbol: AHI1
  hgvsc: ENST00000475846.2:c.418T>G
  hgvsp: ENST00000475846.2:c.418T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356773
  ensembl transcript: ENST00000367799
  gene symbol: AHI1
  hgvsc: ENST00000367799.2:c.725T>G
  hgvsp: ENST00000367799.2:c.725T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000265602
  ensembl transcript: ENST00000265602
  gene symbol: AHI1
  hgvsc: ENST00000265602.6:c.2226T>G
  hgvsp: ENST00000265602.6:c.2226T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000388650
  ensembl transcript: ENST00000457866
  gene symbol: AHI1
  hgvsc: ENST00000457866.2:c.2226T>G
  hgvsp: ENST00000457866.2:c.2226T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000416867
  ensembl transcript: ENST00000417892
  gene symbol: AHI1
  hgvsc: ENST00000417892.2:c.288T>G
  hgvsp: ENST00000417892.2:c.288T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356774
  ensembl transcript: ENST00000367800
  gene symbol: AHI1
  hgvsc: ENST00000367800.4:c.2226T>G
  hgvsp: ENST00000367800.4:c.2226T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21575
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24365
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7057
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25953
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Val742Val
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

6-135754208-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135754208
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 135754208
    reference: chr 6
allele count: 2948
allele frequency: 2.442216883439649e-2
allele num: 120710
alternate allele: G
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000432167
  ensembl transcript: ENST00000531788
  gene symbol: AHI1
  hgvsc: ENST00000531788.1:c.*426T>C
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356773
  ensembl transcript: ENST00000367799
  gene symbol: AHI1
  hgvsc: ENST00000367799.2:c.722T>C
  hgvsp: ENST00000367799.2:c.722T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000435710
  ensembl transcript: ENST00000475846
  gene symbol: AHI1
  hgvsc: ENST00000475846.2:c.415T>C
  hgvsp: ENST00000475846.2:c.415T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000416867
  ensembl transcript: ENST00000417892
  gene symbol: AHI1
  hgvsc: ENST00000417892.2:c.285T>C
  hgvsp: ENST00000417892.2:c.285T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000265602
  ensembl transcript: ENST00000265602
  gene symbol: AHI1
  hgvsc: ENST00000265602.6:c.2223T>C
  hgvsp: ENST00000265602.6:c.2223T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000322478
  ensembl transcript: ENST00000327035
  gene symbol: AHI1
  hgvsc: ENST00000327035.6:c.2223T>C
  hgvsp: ENST00000327035.6:c.2223T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356774
  ensembl transcript: ENST00000367800
  gene symbol: AHI1
  hgvsc: ENST00000367800.4:c.2223T>C
  hgvsp: ENST00000367800.4:c.2223T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000388650
  ensembl transcript: ENST00000457866
  gene symbol: AHI1
  hgvsc: ENST00000457866.2:c.2223T>C
  hgvsp: ENST00000457866.2:c.2223T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21575
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 131
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.75e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2163
  bin: 9.75e1
  variant carriers: 2121
genotype depth: GenotypeDepth
  all individuals: 25378
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 4.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.75e1
  variant carriers: 85
genotype depth: GenotypeDepth
  all individuals: 23403
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6533
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.25e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.25e1
  variant carriers: 119
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 4.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.75e1
  variant carriers: 119
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.25e1
  variant carriers: 74
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48514
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asp741Asp
num of homozygotes: 71
population: African
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

6-135754209-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135754209
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 135754209
    reference: chr 6
allele count: 13
allele frequency: 1.076925625859469e-4
allele num: 120714
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000322478
  ensembl transcript: ENST00000327035
  gene symbol: AHI1
  hgvsc: ENST00000327035.6:c.2222A>G
  hgvsp: ENSP00000322478.6:p.Asp741Gly
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000416867
  ensembl transcript: ENST00000417892
  gene symbol: AHI1
  hgvsc: ENST00000417892.2:c.284A>G
  hgvsp: ENSP00000416867.2:p.Asp95Gly
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356774
  ensembl transcript: ENST00000367800
  gene symbol: AHI1
  hgvsc: ENST00000367800.4:c.2222A>G
  hgvsp: ENSP00000356774.4:p.Asp741Gly
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000388650
  ensembl transcript: ENST00000457866
  gene symbol: AHI1
  hgvsc: ENST00000457866.2:c.2222A>G
  hgvsp: ENSP00000388650.2:p.Asp741Gly
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000265602
  ensembl transcript: ENST00000265602
  gene symbol: AHI1
  hgvsc: ENST00000265602.6:c.2222A>G
  hgvsp: ENSP00000265602.6:p.Asp741Gly
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356773
  ensembl transcript: ENST00000367799
  gene symbol: AHI1
  hgvsc: ENST00000367799.2:c.721A>G
  hgvsp: ENSP00000356773.2:p.Asp241Gly
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000435710
  ensembl transcript: ENST00000475846
  gene symbol: AHI1
  hgvsc: ENST00000475846.2:c.414A>G
  hgvsp: ENSP00000435710.1:p.Asp139Gly
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000432167
  ensembl transcript: ENST00000531788
  gene symbol: AHI1
  hgvsc: ENST00000531788.1:c.*425A>G
  variant of: http://identifiers.org/hgnc/21575
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 23904
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26983
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7140
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1008
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asp741Gly
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP

6-135754216-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135754216
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 135754216
    reference: chr 6
allele count: 1
allele frequency: 8.28349430923941e-6
allele num: 120722
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000416867
  ensembl transcript: ENST00000417892
  gene symbol: AHI1
  hgvsc: ENST00000417892.2:c.277C>T
  hgvsp: ENSP00000416867.2:p.Gln93Ter
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356773
  ensembl transcript: ENST00000367799
  gene symbol: AHI1
  hgvsc: ENST00000367799.2:c.714C>T
  hgvsp: ENSP00000356773.2:p.Gln239Ter
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000432167
  ensembl transcript: ENST00000531788
  gene symbol: AHI1
  hgvsc: ENST00000531788.1:c.*418C>T
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000322478
  ensembl transcript: ENST00000327035
  gene symbol: AHI1
  hgvsc: ENST00000327035.6:c.2215C>T
  hgvsp: ENSP00000322478.6:p.Gln739Ter
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000435710
  ensembl transcript: ENST00000475846
  gene symbol: AHI1
  hgvsc: ENST00000475846.2:c.407C>T
  hgvsp: ENSP00000435710.1:p.Gln137Ter
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356774
  ensembl transcript: ENST00000367800
  gene symbol: AHI1
  hgvsc: ENST00000367800.4:c.2215C>T
  hgvsp: ENSP00000356774.4:p.Gln739Ter
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000388650
  ensembl transcript: ENST00000457866
  gene symbol: AHI1
  hgvsc: ENST00000457866.2:c.2215C>T
  hgvsp: ENSP00000388650.2:p.Gln739Ter
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000265602
  ensembl transcript: ENST00000265602
  gene symbol: AHI1
  hgvsc: ENST00000265602.6:c.2215C>T
  hgvsp: ENSP00000265602.6:p.Gln739Ter
  variant of: http://identifiers.org/hgnc/21575
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7145
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23910
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26988
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gln739Ter
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: African
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

6-135754218-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135754218
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 135754218
    reference: chr 6
allele count: 1
allele frequency: 8.283357078956959e-6
allele num: 120724
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356773
  ensembl transcript: ENST00000367799
  gene symbol: AHI1
  hgvsc: ENST00000367799.2:c.712G>A
  hgvsp: ENSP00000356773.2:p.Arg238Gln
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000435710
  ensembl transcript: ENST00000475846
  gene symbol: AHI1
  hgvsc: ENST00000475846.2:c.405G>A
  hgvsp: ENSP00000435710.1:p.Arg136Gln
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000416867
  ensembl transcript: ENST00000417892
  gene symbol: AHI1
  hgvsc: ENST00000417892.2:c.275G>A
  hgvsp: ENSP00000416867.2:p.Arg92Gln
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000388650
  ensembl transcript: ENST00000457866
  gene symbol: AHI1
  hgvsc: ENST00000457866.2:c.2213G>A
  hgvsp: ENSP00000388650.2:p.Arg738Gln
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356774
  ensembl transcript: ENST00000367800
  gene symbol: AHI1
  hgvsc: ENST00000367800.4:c.2213G>A
  hgvsp: ENSP00000356774.4:p.Arg738Gln
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000432167
  ensembl transcript: ENST00000531788
  gene symbol: AHI1
  hgvsc: ENST00000531788.1:c.*416G>A
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000265602
  ensembl transcript: ENST00000265602
  gene symbol: AHI1
  hgvsc: ENST00000265602.6:c.2213G>A
  hgvsp: ENSP00000265602.6:p.Arg738Gln
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000322478
  ensembl transcript: ENST00000327035
  gene symbol: AHI1
  hgvsc: ENST00000327035.6:c.2213G>A
  hgvsp: ENSP00000322478.6:p.Arg738Gln
  variant of: http://identifiers.org/hgnc/21575
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26990
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7144
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23910
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg738Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

6-135754219-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135754219
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 135754219
    reference: chr 6
allele count: 2
allele frequency: 1.656698861847882e-5
allele num: 120722
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000322478
  ensembl transcript: ENST00000327035
  gene symbol: AHI1
  hgvsc: ENST00000327035.6:c.2212C>T
  hgvsp: ENSP00000322478.6:p.Arg738Ter
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356774
  ensembl transcript: ENST00000367800
  gene symbol: AHI1
  hgvsc: ENST00000367800.4:c.2212C>T
  hgvsp: ENSP00000356774.4:p.Arg738Ter
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000435710
  ensembl transcript: ENST00000475846
  gene symbol: AHI1
  hgvsc: ENST00000475846.2:c.404C>T
  hgvsp: ENSP00000435710.1:p.Arg136Ter
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000388650
  ensembl transcript: ENST00000457866
  gene symbol: AHI1
  hgvsc: ENST00000457866.2:c.2212C>T
  hgvsp: ENSP00000388650.2:p.Arg738Ter
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000432167
  ensembl transcript: ENST00000531788
  gene symbol: AHI1
  hgvsc: ENST00000531788.1:c.*415C>T
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000416867
  ensembl transcript: ENST00000417892
  gene symbol: AHI1
  hgvsc: ENST00000417892.2:c.274C>T
  hgvsp: ENSP00000416867.2:p.Arg92Ter
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356773
  ensembl transcript: ENST00000367799
  gene symbol: AHI1
  hgvsc: ENST00000367799.2:c.711C>T
  hgvsp: ENSP00000356773.2:p.Arg238Ter
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000265602
  ensembl transcript: ENST00000265602
  gene symbol: AHI1
  hgvsc: ENST00000265602.6:c.2212C>T
  hgvsp: ENSP00000265602.6:p.Arg738Ter
  variant of: http://identifiers.org/hgnc/21575
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23909
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7144
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26991
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50785
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg738Ter
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQRankSum

6-135754228-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135754228
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 135754228
    reference: chr 6
allele count: 4
allele frequency: 3.313233052812935e-5
allele num: 120728
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000432167
  ensembl transcript: ENST00000531788
  gene symbol: AHI1
  hgvsc: ENST00000531788.1:c.*406A>G
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000265602
  ensembl transcript: ENST00000265602
  gene symbol: AHI1
  hgvsc: ENST00000265602.6:c.2203A>G
  hgvsp: ENSP00000265602.6:p.Ile735Val
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000388650
  ensembl transcript: ENST00000457866
  gene symbol: AHI1
  hgvsc: ENST00000457866.2:c.2203A>G
  hgvsp: ENSP00000388650.2:p.Ile735Val
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000322478
  ensembl transcript: ENST00000327035
  gene symbol: AHI1
  hgvsc: ENST00000327035.6:c.2203A>G
  hgvsp: ENSP00000322478.6:p.Ile735Val
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356773
  ensembl transcript: ENST00000367799
  gene symbol: AHI1
  hgvsc: ENST00000367799.2:c.702A>G
  hgvsp: ENSP00000356773.2:p.Ile235Val
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000416867
  ensembl transcript: ENST00000417892
  gene symbol: AHI1
  hgvsc: ENST00000417892.2:c.265A>G
  hgvsp: ENSP00000416867.2:p.Ile89Val
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356774
  ensembl transcript: ENST00000367800
  gene symbol: AHI1
  hgvsc: ENST00000367800.4:c.2203A>G
  hgvsp: ENSP00000356774.4:p.Ile735Val
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000435710
  ensembl transcript: ENST00000475846
  gene symbol: AHI1
  hgvsc: ENST00000475846.2:c.395A>G
  hgvsp: ENSP00000435710.1:p.Ile133Val
  variant of: http://identifiers.org/hgnc/21575
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23913
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26991
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7143
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ile735Val
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/6-135754237-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135754237
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 135754237
    reference: chr 6
allele count: 1
allele frequency: 8.283357078956959e-6
allele num: 120724
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000265602
  ensembl transcript: ENST00000265602
  gene symbol: AHI1
  hgvsc: ENST00000265602.6:c.2194G>T
  hgvsp: ENSP00000265602.6:p.Asp732Tyr
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356774
  ensembl transcript: ENST00000367800
  gene symbol: AHI1
  hgvsc: ENST00000367800.4:c.2194G>T
  hgvsp: ENSP00000356774.4:p.Asp732Tyr
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000416867
  ensembl transcript: ENST00000417892
  gene symbol: AHI1
  hgvsc: ENST00000417892.2:c.256G>T
  hgvsp: ENSP00000416867.2:p.Asp86Tyr
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000435710
  ensembl transcript: ENST00000475846
  gene symbol: AHI1
  hgvsc: ENST00000475846.2:c.386G>T
  hgvsp: ENSP00000435710.1:p.Asp130Tyr
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000388650
  ensembl transcript: ENST00000457866
  gene symbol: AHI1
  hgvsc: ENST00000457866.2:c.2194G>T
  hgvsp: ENSP00000388650.2:p.Asp732Tyr
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000322478
  ensembl transcript: ENST00000327035
  gene symbol: AHI1
  hgvsc: ENST00000327035.6:c.2194G>T
  hgvsp: ENSP00000322478.6:p.Asp732Tyr
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000432167
  ensembl transcript: ENST00000531788
  gene symbol: AHI1
  hgvsc: ENST00000531788.1:c.*397G>T
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356773
  ensembl transcript: ENST00000367799
  gene symbol: AHI1
  hgvsc: ENST00000367799.2:c.693G>T
  hgvsp: ENSP00000356773.2:p.Asp232Tyr
  variant of: http://identifiers.org/hgnc/21575
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27000
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7138
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23908
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 862
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50797
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asp732Tyr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

6-135754237-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135754237
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 135754237
    reference: chr 6
allele count: 2
allele frequency: 1.656671415791392e-5
allele num: 120724
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000435710
  ensembl transcript: ENST00000475846
  gene symbol: AHI1
  hgvsc: ENST00000475846.2:c.386G>C
  hgvsp: ENSP00000435710.1:p.Asp130His
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356773
  ensembl transcript: ENST00000367799
  gene symbol: AHI1
  hgvsc: ENST00000367799.2:c.693G>C
  hgvsp: ENSP00000356773.2:p.Asp232His
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000432167
  ensembl transcript: ENST00000531788
  gene symbol: AHI1
  hgvsc: ENST00000531788.1:c.*397G>C
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000265602
  ensembl transcript: ENST00000265602
  gene symbol: AHI1
  hgvsc: ENST00000265602.6:c.2194G>C
  hgvsp: ENSP00000265602.6:p.Asp732His
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000388650
  ensembl transcript: ENST00000457866
  gene symbol: AHI1
  hgvsc: ENST00000457866.2:c.2194G>C
  hgvsp: ENSP00000388650.2:p.Asp732His
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000322478
  ensembl transcript: ENST00000327035
  gene symbol: AHI1
  hgvsc: ENST00000327035.6:c.2194G>C
  hgvsp: ENSP00000322478.6:p.Asp732His
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000416867
  ensembl transcript: ENST00000417892
  gene symbol: AHI1
  hgvsc: ENST00000417892.2:c.256G>C
  hgvsp: ENSP00000416867.2:p.Asp86His
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356774
  ensembl transcript: ENST00000367800
  gene symbol: AHI1
  hgvsc: ENST00000367800.4:c.2194G>C
  hgvsp: ENSP00000356774.4:p.Asp732His
  variant of: http://identifiers.org/hgnc/21575
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27000
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23908
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7138
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 862
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5926
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asp732His
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD

6-135754239-TCTC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135754239
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 135754236
    reference: chr 6
allele count: 1
allele frequency: 8.28349430923941e-6
allele num: 120722
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356774
  ensembl transcript: ENST00000367800
  gene symbol: AHI1
  hgvsc: ENST00000367800.4:c.2189_2191delGAG
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356773
  ensembl transcript: ENST00000367799
  gene symbol: AHI1
  hgvsc: ENST00000367799.2:c.688_690delGAG
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000432167
  ensembl transcript: ENST00000531788
  gene symbol: AHI1
  hgvsc: ENST00000531788.1:c.*392_*394delGAG
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000435710
  ensembl transcript: ENST00000475846
  gene symbol: AHI1
  hgvsc: ENST00000475846.2:c.381_383delGAG
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000388650
  ensembl transcript: ENST00000457866
  gene symbol: AHI1
  hgvsc: ENST00000457866.2:c.2189_2191delGAG
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000322478
  ensembl transcript: ENST00000327035
  gene symbol: AHI1
  hgvsc: ENST00000327035.6:c.2189_2191delGAG
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000416867
  ensembl transcript: ENST00000417892
  gene symbol: AHI1
  hgvsc: ENST00000417892.2:c.251_253delGAG
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000265602
  ensembl transcript: ENST00000265602
  gene symbol: AHI1
  hgvsc: ENST00000265602.6:c.2189_2191delGAG
  variant of: http://identifiers.org/hgnc/21575
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23905
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7140
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27001
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50797
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 863
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg730_Glu731delinsLys
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: TCTC
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

6-135754247-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135754247
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 135754247
    reference: chr 6
allele count: 1
allele frequency: 8.28349430923941e-6
allele num: 120722
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000322478
  ensembl transcript: ENST00000327035
  gene symbol: AHI1
  hgvsc: ENST00000327035.6:c.2184G>C
  hgvsp: ENSP00000322478.6:p.Glu728Asp
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000265602
  ensembl transcript: ENST00000265602
  gene symbol: AHI1
  hgvsc: ENST00000265602.6:c.2184G>C
  hgvsp: ENSP00000265602.6:p.Glu728Asp
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000432167
  ensembl transcript: ENST00000531788
  gene symbol: AHI1
  hgvsc: ENST00000531788.1:c.*387G>C
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000435710
  ensembl transcript: ENST00000475846
  gene symbol: AHI1
  hgvsc: ENST00000475846.2:c.376G>C
  hgvsp: ENSP00000435710.1:p.Glu126Asp
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000416867
  ensembl transcript: ENST00000417892
  gene symbol: AHI1
  hgvsc: ENST00000417892.2:c.246G>C
  hgvsp: ENSP00000416867.2:p.Glu82Asp
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000388650
  ensembl transcript: ENST00000457866
  gene symbol: AHI1
  hgvsc: ENST00000457866.2:c.2184G>C
  hgvsp: ENSP00000388650.2:p.Glu728Asp
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356774
  ensembl transcript: ENST00000367800
  gene symbol: AHI1
  hgvsc: ENST00000367800.4:c.2184G>C
  hgvsp: ENSP00000356774.4:p.Glu728Asp
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356773
  ensembl transcript: ENST00000367799
  gene symbol: AHI1
  hgvsc: ENST00000367799.2:c.683G>C
  hgvsp: ENSP00000356773.2:p.Glu228Asp
  variant of: http://identifiers.org/hgnc/21575
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7140
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26999
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23906
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Glu728Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

6-135754247-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135754247
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 135754247
    reference: chr 6
allele count: 2
allele frequency: 1.656698861847882e-5
allele num: 120722
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000388650
  ensembl transcript: ENST00000457866
  gene symbol: AHI1
  hgvsc: ENST00000457866.2:c.2184G>A
  hgvsp: ENST00000457866.2:c.2184G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000416867
  ensembl transcript: ENST00000417892
  gene symbol: AHI1
  hgvsc: ENST00000417892.2:c.246G>A
  hgvsp: ENST00000417892.2:c.246G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000435710
  ensembl transcript: ENST00000475846
  gene symbol: AHI1
  hgvsc: ENST00000475846.2:c.376G>A
  hgvsp: ENST00000475846.2:c.376G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356773
  ensembl transcript: ENST00000367799
  gene symbol: AHI1
  hgvsc: ENST00000367799.2:c.683G>A
  hgvsp: ENST00000367799.2:c.683G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356774
  ensembl transcript: ENST00000367800
  gene symbol: AHI1
  hgvsc: ENST00000367800.4:c.2184G>A
  hgvsp: ENST00000367800.4:c.2184G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000322478
  ensembl transcript: ENST00000327035
  gene symbol: AHI1
  hgvsc: ENST00000327035.6:c.2184G>A
  hgvsp: ENST00000327035.6:c.2184G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000432167
  ensembl transcript: ENST00000531788
  gene symbol: AHI1
  hgvsc: ENST00000531788.1:c.*387G>A
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000265602
  ensembl transcript: ENST00000265602
  gene symbol: AHI1
  hgvsc: ENST00000265602.6:c.2184G>A
  hgvsp: ENST00000265602.6:c.2184G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21575
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26999
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23906
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7140
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5925
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Glu728Glu
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

6-135754253-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135754253
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 135754253
    reference: chr 6
allele count: 2
allele frequency: 1.656781205474005e-5
allele num: 120716
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356774
  ensembl transcript: ENST00000367800
  gene symbol: AHI1
  hgvsc: ENST00000367800.4:c.2178A>G
  hgvsp: ENST00000367800.4:c.2178A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000388650
  ensembl transcript: ENST00000457866
  gene symbol: AHI1
  hgvsc: ENST00000457866.2:c.2178A>G
  hgvsp: ENST00000457866.2:c.2178A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000435710
  ensembl transcript: ENST00000475846
  gene symbol: AHI1
  hgvsc: ENST00000475846.2:c.370A>G
  hgvsp: ENST00000475846.2:c.370A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000322478
  ensembl transcript: ENST00000327035
  gene symbol: AHI1
  hgvsc: ENST00000327035.6:c.2178A>G
  hgvsp: ENST00000327035.6:c.2178A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000265602
  ensembl transcript: ENST00000265602
  gene symbol: AHI1
  hgvsc: ENST00000265602.6:c.2178A>G
  hgvsp: ENST00000265602.6:c.2178A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356773
  ensembl transcript: ENST00000367799
  gene symbol: AHI1
  hgvsc: ENST00000367799.2:c.677A>G
  hgvsp: ENST00000367799.2:c.677A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000416867
  ensembl transcript: ENST00000417892
  gene symbol: AHI1
  hgvsc: ENST00000417892.2:c.240A>G
  hgvsp: ENST00000417892.2:c.240A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000432167
  ensembl transcript: ENST00000531788
  gene symbol: AHI1
  hgvsc: ENST00000531788.1:c.*381A>G
  variant of: http://identifiers.org/hgnc/21575
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26999
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23903
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7140
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 861
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5928
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Lys726Lys
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

6-135754257-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135754257
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 135754257
    reference: chr 6
allele count: 3
allele frequency: 2.485171808211008e-5
allele num: 120716
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000322478
  ensembl transcript: ENST00000327035
  gene symbol: AHI1
  hgvsc: ENST00000327035.6:c.2174G>A
  hgvsp: ENSP00000322478.6:p.Trp725Ter
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000388650
  ensembl transcript: ENST00000457866
  gene symbol: AHI1
  hgvsc: ENST00000457866.2:c.2174G>A
  hgvsp: ENSP00000388650.2:p.Trp725Ter
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000265602
  ensembl transcript: ENST00000265602
  gene symbol: AHI1
  hgvsc: ENST00000265602.6:c.2174G>A
  hgvsp: ENSP00000265602.6:p.Trp725Ter
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000416867
  ensembl transcript: ENST00000417892
  gene symbol: AHI1
  hgvsc: ENST00000417892.2:c.236G>A
  hgvsp: ENSP00000416867.2:p.Trp79Ter
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356773
  ensembl transcript: ENST00000367799
  gene symbol: AHI1
  hgvsc: ENST00000367799.2:c.673G>A
  hgvsp: ENSP00000356773.2:p.Trp225Ter
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000435710
  ensembl transcript: ENST00000475846
  gene symbol: AHI1
  hgvsc: ENST00000475846.2:c.366G>A
  hgvsp: ENSP00000435710.1:p.Trp123Ter
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356774
  ensembl transcript: ENST00000367800
  gene symbol: AHI1
  hgvsc: ENST00000367800.4:c.2174G>A
  hgvsp: ENSP00000356774.4:p.Trp725Ter
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000432167
  ensembl transcript: ENST00000531788
  gene symbol: AHI1
  hgvsc: ENST00000531788.1:c.*377G>A
  variant of: http://identifiers.org/hgnc/21575
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26997
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7142
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23901
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50786
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Trp725Ter
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ

6-135754258-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135754258
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 135754257
    reference: chr 6
allele count: 1
allele frequency: 8.283768783445716e-6
allele num: 120718
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000388650
  ensembl transcript: ENST00000457866
  gene symbol: AHI1
  hgvsc: ENST00000457866.2:c.2172delA
  hgvsp: ENSP00000388650.2:p.Trp725GlyfsTer5
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000322478
  ensembl transcript: ENST00000327035
  gene symbol: AHI1
  hgvsc: ENST00000327035.6:c.2172delA
  hgvsp: ENSP00000322478.6:p.Trp725GlyfsTer5
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000432167
  ensembl transcript: ENST00000531788
  gene symbol: AHI1
  hgvsc: ENST00000531788.1:c.*375delA
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000435710
  ensembl transcript: ENST00000475846
  gene symbol: AHI1
  hgvsc: ENST00000475846.2:c.364delA
  hgvsp: ENSP00000435710.1:p.Trp123GlyfsTer5
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000265602
  ensembl transcript: ENST00000265602
  gene symbol: AHI1
  hgvsc: ENST00000265602.6:c.2172delA
  hgvsp: ENSP00000265602.6:p.Trp725GlyfsTer5
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000416867
  ensembl transcript: ENST00000417892
  gene symbol: AHI1
  hgvsc: ENST00000417892.2:c.234delA
  hgvsp: ENSP00000416867.2:p.Trp79GlyfsTer5
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356774
  ensembl transcript: ENST00000367800
  gene symbol: AHI1
  hgvsc: ENST00000367800.4:c.2172delA
  hgvsp: ENSP00000356774.4:p.Trp725GlyfsTer5
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356773
  ensembl transcript: ENST00000367799
  gene symbol: AHI1
  hgvsc: ENST00000367799.2:c.671delA
  hgvsp: ENSP00000356773.2:p.Trp225GlyfsTer5
  variant of: http://identifiers.org/hgnc/21575
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27001
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23898
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7143
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 860
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Trp725GlyfsTer5
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
reference allele: AT
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum

6-135754259-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135754259
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 135754259
    reference: chr 6
allele count: 37
allele frequency: 3.065146795678972e-4
allele num: 120712
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000388650
  ensembl transcript: ENST00000457866
  gene symbol: AHI1
  hgvsc: ENST00000457866.2:c.2172A>G
  hgvsp: ENSP00000388650.2:p.Ile724Met
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000416867
  ensembl transcript: ENST00000417892
  gene symbol: AHI1
  hgvsc: ENST00000417892.2:c.234A>G
  hgvsp: ENSP00000416867.2:p.Ile78Met
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000432167
  ensembl transcript: ENST00000531788
  gene symbol: AHI1
  hgvsc: ENST00000531788.1:c.*375A>G
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000322478
  ensembl transcript: ENST00000327035
  gene symbol: AHI1
  hgvsc: ENST00000327035.6:c.2172A>G
  hgvsp: ENSP00000322478.6:p.Ile724Met
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356774
  ensembl transcript: ENST00000367800
  gene symbol: AHI1
  hgvsc: ENST00000367800.4:c.2172A>G
  hgvsp: ENSP00000356774.4:p.Ile724Met
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000435710
  ensembl transcript: ENST00000475846
  gene symbol: AHI1
  hgvsc: ENST00000475846.2:c.364A>G
  hgvsp: ENSP00000435710.1:p.Ile122Met
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000265602
  ensembl transcript: ENST00000265602
  gene symbol: AHI1
  hgvsc: ENST00000265602.6:c.2172A>G
  hgvsp: ENSP00000265602.6:p.Ile724Met
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356773
  ensembl transcript: ENST00000367799
  gene symbol: AHI1
  hgvsc: ENST00000367799.2:c.671A>G
  hgvsp: ENSP00000356773.2:p.Ile224Met
  variant of: http://identifiers.org/hgnc/21575
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23883
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7135
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26996
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1018
  bin: 9.75e1
  variant carriers: 35
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ile724Met
num of homozygotes: 2
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS

6-135754260-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135754260
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 135754260
    reference: chr 6
allele count: 1
allele frequency: 8.284455048546906e-6
allele num: 120708
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000322478
  ensembl transcript: ENST00000327035
  gene symbol: AHI1
  hgvsc: ENST00000327035.6:c.2171T>C
  hgvsp: ENSP00000322478.6:p.Ile724Thr
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000416867
  ensembl transcript: ENST00000417892
  gene symbol: AHI1
  hgvsc: ENST00000417892.2:c.233T>C
  hgvsp: ENSP00000416867.2:p.Ile78Thr
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356773
  ensembl transcript: ENST00000367799
  gene symbol: AHI1
  hgvsc: ENST00000367799.2:c.670T>C
  hgvsp: ENSP00000356773.2:p.Ile224Thr
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000388650
  ensembl transcript: ENST00000457866
  gene symbol: AHI1
  hgvsc: ENST00000457866.2:c.2171T>C
  hgvsp: ENSP00000388650.2:p.Ile724Thr
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000432167
  ensembl transcript: ENST00000531788
  gene symbol: AHI1
  hgvsc: ENST00000531788.1:c.*374T>C
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000435710
  ensembl transcript: ENST00000475846
  gene symbol: AHI1
  hgvsc: ENST00000475846.2:c.363T>C
  hgvsp: ENSP00000435710.1:p.Ile122Thr
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000265602
  ensembl transcript: ENST00000265602
  gene symbol: AHI1
  hgvsc: ENST00000265602.6:c.2171T>C
  hgvsp: ENSP00000265602.6:p.Ile724Thr
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356774
  ensembl transcript: ENST00000367800
  gene symbol: AHI1
  hgvsc: ENST00000367800.4:c.2171T>C
  hgvsp: ENSP00000356774.4:p.Ile724Thr
  variant of: http://identifiers.org/hgnc/21575
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7142
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23890
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27014
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5928
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50796
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 861
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ile724Thr
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

6-135754263-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135754263
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 135754263
    reference: chr 6
allele count: 5
allele frequency: 4.142021637921037e-5
allele num: 120714
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000265602
  ensembl transcript: ENST00000265602
  gene symbol: AHI1
  hgvsc: ENST00000265602.6:c.2168G>A
  hgvsp: ENSP00000265602.6:p.Arg723Gln
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000322478
  ensembl transcript: ENST00000327035
  gene symbol: AHI1
  hgvsc: ENST00000327035.6:c.2168G>A
  hgvsp: ENSP00000322478.6:p.Arg723Gln
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000388650
  ensembl transcript: ENST00000457866
  gene symbol: AHI1
  hgvsc: ENST00000457866.2:c.2168G>A
  hgvsp: ENSP00000388650.2:p.Arg723Gln
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356773
  ensembl transcript: ENST00000367799
  gene symbol: AHI1
  hgvsc: ENST00000367799.2:c.667G>A
  hgvsp: ENSP00000356773.2:p.Arg223Gln
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000416867
  ensembl transcript: ENST00000417892
  gene symbol: AHI1
  hgvsc: ENST00000417892.2:c.230G>A
  hgvsp: ENSP00000416867.2:p.Arg77Gln
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: true
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356774
  ensembl transcript: ENST00000367800
  gene symbol: AHI1
  hgvsc: ENST00000367800.4:c.2168G>A
  hgvsp: ENSP00000356774.4:p.Arg723Gln
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000435710
  ensembl transcript: ENST00000475846
  gene symbol: AHI1
  hgvsc: ENST00000475846.2:c.360G>A
  hgvsp: ENSP00000435710.1:p.Arg121Gln
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000432167
  ensembl transcript: ENST00000531788
  gene symbol: AHI1
  hgvsc: ENST00000531788.1:c.*371G>A
  variant of: http://identifiers.org/hgnc/21575
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27020
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23883
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7139
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg723Gln
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum

6-135754264-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135754264
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 135754264
    reference: chr 6
allele count: 1
allele frequency: 8.284455048546906e-6
allele num: 120708
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000432167
  ensembl transcript: ENST00000531788
  gene symbol: AHI1
  hgvsc: ENST00000531788.1:c.*370C>T
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000435710
  ensembl transcript: ENST00000475846
  gene symbol: AHI1
  hgvsc: ENST00000475846.2:c.359C>T
  hgvsp: ENSP00000435710.1:p.Arg121Trp
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000322478
  ensembl transcript: ENST00000327035
  gene symbol: AHI1
  hgvsc: ENST00000327035.6:c.2167C>T
  hgvsp: ENSP00000322478.6:p.Arg723Trp
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000265602
  ensembl transcript: ENST00000265602
  gene symbol: AHI1
  hgvsc: ENST00000265602.6:c.2167C>T
  hgvsp: ENSP00000265602.6:p.Arg723Trp
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356773
  ensembl transcript: ENST00000367799
  gene symbol: AHI1
  hgvsc: ENST00000367799.2:c.666C>T
  hgvsp: ENSP00000356773.2:p.Arg223Trp
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000416867
  ensembl transcript: ENST00000417892
  gene symbol: AHI1
  hgvsc: ENST00000417892.2:c.229C>T
  hgvsp: ENSP00000416867.2:p.Arg77Trp
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356774
  ensembl transcript: ENST00000367800
  gene symbol: AHI1
  hgvsc: ENST00000367800.4:c.2167C>T
  hgvsp: ENSP00000356774.4:p.Arg723Trp
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000388650
  ensembl transcript: ENST00000457866
  gene symbol: AHI1
  hgvsc: ENST00000457866.2:c.2167C>T
  hgvsp: ENSP00000388650.2:p.Arg723Trp
  variant of: http://identifiers.org/hgnc/21575
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27022
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23881
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7138
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50795
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 859
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg723Trp
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum

6-135754294-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135754294
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 135754294
    reference: chr 6
allele count: 1
allele frequency: 8.285690612312537e-6
allele num: 120690
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000265602
  ensembl transcript: ENST00000265602
  gene symbol: AHI1
  hgvsc: ENST00000265602.6:c.2137G>C
  hgvsp: ENSP00000265602.6:p.Val713Leu
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356773
  ensembl transcript: ENST00000367799
  gene symbol: AHI1
  hgvsc: ENST00000367799.2:c.636G>C
  hgvsp: ENSP00000356773.2:p.Val213Leu
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000435710
  ensembl transcript: ENST00000475846
  gene symbol: AHI1
  hgvsc: ENST00000475846.2:c.329G>C
  hgvsp: ENSP00000435710.1:p.Val111Leu
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000432167
  ensembl transcript: ENST00000531788
  gene symbol: AHI1
  hgvsc: ENST00000531788.1:c.*340G>C
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000416867
  ensembl transcript: ENST00000417892
  gene symbol: AHI1
  hgvsc: ENST00000417892.2:c.199G>C
  hgvsp: ENSP00000416867.2:p.Val67Leu
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356774
  ensembl transcript: ENST00000367800
  gene symbol: AHI1
  hgvsc: ENST00000367800.4:c.2137G>C
  hgvsp: ENSP00000356774.4:p.Val713Leu
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000388650
  ensembl transcript: ENST00000457866
  gene symbol: AHI1
  hgvsc: ENST00000457866.2:c.2137G>C
  hgvsp: ENSP00000388650.2:p.Val713Leu
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000322478
  ensembl transcript: ENST00000327035
  gene symbol: AHI1
  hgvsc: ENST00000327035.6:c.2137G>C
  hgvsp: ENSP00000322478.6:p.Val713Leu
  variant of: http://identifiers.org/hgnc/21575
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7136
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23856
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27025
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 854
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50781
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Val713Leu
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

6-135754306-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135754306
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 135754306
    reference: chr 6
allele count: 2
allele frequency: 1.657385308936622e-5
allele num: 120672
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000435710
  ensembl transcript: ENST00000475846
  gene symbol: AHI1
  hgvsc: ENST00000475846.2:c.317G>A
  hgvsp: ENSP00000435710.1:p.Val107Ile
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000322478
  ensembl transcript: ENST00000327035
  gene symbol: AHI1
  hgvsc: ENST00000327035.6:c.2125G>A
  hgvsp: ENSP00000322478.6:p.Val709Ile
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000432167
  ensembl transcript: ENST00000531788
  gene symbol: AHI1
  hgvsc: ENST00000531788.1:c.*328G>A
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000388650
  ensembl transcript: ENST00000457866
  gene symbol: AHI1
  hgvsc: ENST00000457866.2:c.2125G>A
  hgvsp: ENSP00000388650.2:p.Val709Ile
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000416867
  ensembl transcript: ENST00000417892
  gene symbol: AHI1
  hgvsc: ENST00000417892.2:c.187G>A
  hgvsp: ENSP00000416867.2:p.Val63Ile
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356774
  ensembl transcript: ENST00000367800
  gene symbol: AHI1
  hgvsc: ENST00000367800.4:c.2125G>A
  hgvsp: ENSP00000356774.4:p.Val709Ile
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000265602
  ensembl transcript: ENST00000265602
  gene symbol: AHI1
  hgvsc: ENST00000265602.6:c.2125G>A
  hgvsp: ENSP00000265602.6:p.Val709Ile
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356773
  ensembl transcript: ENST00000367799
  gene symbol: AHI1
  hgvsc: ENST00000367799.2:c.624G>A
  hgvsp: ENSP00000356773.2:p.Val209Ile
  variant of: http://identifiers.org/hgnc/21575
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23834
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27027
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7135
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5922
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val709Ile
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff

6-135754309-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135754309
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 135754309
    reference: chr 6
allele count: 5
allele frequency: 4.143944040179681e-5
allele num: 120658
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356773
  ensembl transcript: ENST00000367799
  gene symbol: AHI1
  hgvsc: ENST00000367799.2:c.621G>A
  hgvsp: ENSP00000356773.2:p.Ala208Thr
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000435710
  ensembl transcript: ENST00000475846
  gene symbol: AHI1
  hgvsc: ENST00000475846.2:c.314G>A
  hgvsp: ENSP00000435710.1:p.Ala106Thr
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000265602
  ensembl transcript: ENST00000265602
  gene symbol: AHI1
  hgvsc: ENST00000265602.6:c.2122G>A
  hgvsp: ENSP00000265602.6:p.Ala708Thr
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000432167
  ensembl transcript: ENST00000531788
  gene symbol: AHI1
  hgvsc: ENST00000531788.1:c.*325G>A
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000388650
  ensembl transcript: ENST00000457866
  gene symbol: AHI1
  hgvsc: ENST00000457866.2:c.2122G>A
  hgvsp: ENSP00000388650.2:p.Ala708Thr
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000322478
  ensembl transcript: ENST00000327035
  gene symbol: AHI1
  hgvsc: ENST00000327035.6:c.2122G>A
  hgvsp: ENSP00000322478.6:p.Ala708Thr
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356774
  ensembl transcript: ENST00000367800
  gene symbol: AHI1
  hgvsc: ENST00000367800.4:c.2122G>A
  hgvsp: ENSP00000356774.4:p.Ala708Thr
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000416867
  ensembl transcript: ENST00000417892
  gene symbol: AHI1
  hgvsc: ENST00000417892.2:c.184G>A
  hgvsp: ENSP00000416867.2:p.Ala62Thr
  variant of: http://identifiers.org/hgnc/21575
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27028
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7134
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23826
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 986
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 50757
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala708Thr
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

6-135754310-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135754310
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 135754310
    reference: chr 6
allele count: 1
allele frequency: 8.288300235387727e-6
allele num: 120652
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000432167
  ensembl transcript: ENST00000531788
  gene symbol: AHI1
  hgvsc: ENST00000531788.1:c.*324A>G
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000416867
  ensembl transcript: ENST00000417892
  gene symbol: AHI1
  hgvsc: ENST00000417892.2:c.183A>G
  hgvsp: ENST00000417892.2:c.183A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000388650
  ensembl transcript: ENST00000457866
  gene symbol: AHI1
  hgvsc: ENST00000457866.2:c.2121A>G
  hgvsp: ENST00000457866.2:c.2121A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356773
  ensembl transcript: ENST00000367799
  gene symbol: AHI1
  hgvsc: ENST00000367799.2:c.620A>G
  hgvsp: ENST00000367799.2:c.620A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000265602
  ensembl transcript: ENST00000265602
  gene symbol: AHI1
  hgvsc: ENST00000265602.6:c.2121A>G
  hgvsp: ENST00000265602.6:c.2121A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000322478
  ensembl transcript: ENST00000327035
  gene symbol: AHI1
  hgvsc: ENST00000327035.6:c.2121A>G
  hgvsp: ENST00000327035.6:c.2121A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000435710
  ensembl transcript: ENST00000475846
  gene symbol: AHI1
  hgvsc: ENST00000475846.2:c.313A>G
  hgvsp: ENST00000475846.2:c.313A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356774
  ensembl transcript: ENST00000367800
  gene symbol: AHI1
  hgvsc: ENST00000367800.4:c.2121A>G
  hgvsp: ENST00000367800.4:c.2121A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21575
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27031
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7132
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23826
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5921
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro707Pro
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD

6-135754312-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135754312
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 135754312
    reference: chr 6
allele count: 1
allele frequency: 8.288849839196314e-6
allele num: 120644
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356774
  ensembl transcript: ENST00000367800
  gene symbol: AHI1
  hgvsc: ENST00000367800.4:c.2119C>A
  hgvsp: ENSP00000356774.4:p.Pro707Thr
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000265602
  ensembl transcript: ENST00000265602
  gene symbol: AHI1
  hgvsc: ENST00000265602.6:c.2119C>A
  hgvsp: ENSP00000265602.6:p.Pro707Thr
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000435710
  ensembl transcript: ENST00000475846
  gene symbol: AHI1
  hgvsc: ENST00000475846.2:c.311C>A
  hgvsp: ENSP00000435710.1:p.Pro105Thr
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000416867
  ensembl transcript: ENST00000417892
  gene symbol: AHI1
  hgvsc: ENST00000417892.2:c.181C>A
  hgvsp: ENSP00000416867.2:p.Pro61Thr
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356773
  ensembl transcript: ENST00000367799
  gene symbol: AHI1
  hgvsc: ENST00000367799.2:c.618C>A
  hgvsp: ENSP00000356773.2:p.Pro207Thr
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000388650
  ensembl transcript: ENST00000457866
  gene symbol: AHI1
  hgvsc: ENST00000457866.2:c.2119C>A
  hgvsp: ENSP00000388650.2:p.Pro707Thr
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000432167
  ensembl transcript: ENST00000531788
  gene symbol: AHI1
  hgvsc: ENST00000531788.1:c.*322C>A
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000322478
  ensembl transcript: ENST00000327035
  gene symbol: AHI1
  hgvsc: ENST00000327035.6:c.2119C>A
  hgvsp: ENSP00000322478.6:p.Pro707Thr
  variant of: http://identifiers.org/hgnc/21575
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23819
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7135
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27032
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5921
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro707Thr
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

6-135754326-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135754326
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 135754326
    reference: chr 6
allele count: 4
allele frequency: 3.31702462890787e-5
allele num: 120590
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356773
  ensembl transcript: ENST00000367799
  gene symbol: AHI1
  hgvsc: ENST00000367799.2:c.604C>T
  hgvsp: ENSP00000356773.2:p.Thr202Met
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000416867
  ensembl transcript: ENST00000417892
  gene symbol: AHI1
  hgvsc: ENST00000417892.2:c.167C>T
  hgvsp: ENSP00000416867.2:p.Thr56Met
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000388650
  ensembl transcript: ENST00000457866
  gene symbol: AHI1
  hgvsc: ENST00000457866.2:c.2105C>T
  hgvsp: ENSP00000388650.2:p.Thr702Met
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000322478
  ensembl transcript: ENST00000327035
  gene symbol: AHI1
  hgvsc: ENST00000327035.6:c.2105C>T
  hgvsp: ENSP00000322478.6:p.Thr702Met
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000265602
  ensembl transcript: ENST00000265602
  gene symbol: AHI1
  hgvsc: ENST00000265602.6:c.2105C>T
  hgvsp: ENSP00000265602.6:p.Thr702Met
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000432167
  ensembl transcript: ENST00000531788
  gene symbol: AHI1
  hgvsc: ENST00000531788.1:c.*308C>T
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000435710
  ensembl transcript: ENST00000475846
  gene symbol: AHI1
  hgvsc: ENST00000475846.2:c.297C>T
  hgvsp: ENSP00000435710.1:p.Thr100Met
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356774
  ensembl transcript: ENST00000367800
  gene symbol: AHI1
  hgvsc: ENST00000367800.4:c.2105C>T
  hgvsp: ENSP00000356774.4:p.Thr702Met
  variant of: http://identifiers.org/hgnc/21575
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 27031
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7140
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23747
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 991
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr702Met
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum

6-135754326-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135754326
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 135754326
    reference: chr 6
allele count: 1
allele frequency: 8.292561572269675e-6
allele num: 120590
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000388650
  ensembl transcript: ENST00000457866
  gene symbol: AHI1
  hgvsc: ENST00000457866.2:c.2105C>A
  hgvsp: ENSP00000388650.2:p.Thr702Lys
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000265602
  ensembl transcript: ENST00000265602
  gene symbol: AHI1
  hgvsc: ENST00000265602.6:c.2105C>A
  hgvsp: ENSP00000265602.6:p.Thr702Lys
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000432167
  ensembl transcript: ENST00000531788
  gene symbol: AHI1
  hgvsc: ENST00000531788.1:c.*308C>A
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000435710
  ensembl transcript: ENST00000475846
  gene symbol: AHI1
  hgvsc: ENST00000475846.2:c.297C>A
  hgvsp: ENSP00000435710.1:p.Thr100Lys
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000416867
  ensembl transcript: ENST00000417892
  gene symbol: AHI1
  hgvsc: ENST00000417892.2:c.167C>A
  hgvsp: ENSP00000416867.2:p.Thr56Lys
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356774
  ensembl transcript: ENST00000367800
  gene symbol: AHI1
  hgvsc: ENST00000367800.4:c.2105C>A
  hgvsp: ENSP00000356774.4:p.Thr702Lys
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356773
  ensembl transcript: ENST00000367799
  gene symbol: AHI1
  hgvsc: ENST00000367799.2:c.604C>A
  hgvsp: ENSP00000356773.2:p.Thr202Lys
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000322478
  ensembl transcript: ENST00000327035
  gene symbol: AHI1
  hgvsc: ENST00000327035.6:c.2105C>A
  hgvsp: ENSP00000322478.6:p.Thr702Lys
  variant of: http://identifiers.org/hgnc/21575
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7140
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27031
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23747
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50691
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5909
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Thr702Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP

6-135754338-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135754338
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 135754338
    reference: chr 6
allele count: 2
allele frequency: 1.660412446451699e-5
allele num: 120452
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000322478
  ensembl transcript: ENST00000327035
  gene symbol: AHI1
  hgvsc: ENST00000327035.6:c.2093C>G
  hgvsp: ENSP00000322478.6:p.Ser698Cys
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000432167
  ensembl transcript: ENST00000531788
  gene symbol: AHI1
  hgvsc: ENST00000531788.1:c.*296C>G
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000435710
  ensembl transcript: ENST00000475846
  gene symbol: AHI1
  hgvsc: ENST00000475846.2:c.285C>G
  hgvsp: ENSP00000435710.1:p.Ser96Cys
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356773
  ensembl transcript: ENST00000367799
  gene symbol: AHI1
  hgvsc: ENST00000367799.2:c.592C>G
  hgvsp: ENSP00000356773.2:p.Ser198Cys
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356774
  ensembl transcript: ENST00000367800
  gene symbol: AHI1
  hgvsc: ENST00000367800.4:c.2093C>G
  hgvsp: ENSP00000356774.4:p.Ser698Cys
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000265602
  ensembl transcript: ENST00000265602
  gene symbol: AHI1
  hgvsc: ENST00000265602.6:c.2093C>G
  hgvsp: ENSP00000265602.6:p.Ser698Cys
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000388650
  ensembl transcript: ENST00000457866
  gene symbol: AHI1
  hgvsc: ENST00000457866.2:c.2093C>G
  hgvsp: ENSP00000388650.2:p.Ser698Cys
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000416867
  ensembl transcript: ENST00000417892
  gene symbol: AHI1
  hgvsc: ENST00000417892.2:c.155C>G
  hgvsp: ENSP00000416867.2:p.Ser52Cys
  variant of: http://identifiers.org/hgnc/21575
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7130
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26998
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23633
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50550
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser698Cys
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

6-135754351-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135754351
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 135754351
    reference: chr 6
allele count: 1
allele frequency: 8.337919188887221e-6
allele num: 119934
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000388650
  ensembl transcript: ENST00000457866
  gene symbol: AHI1
  hgvsc: ENST00000457866.2:c.2080T>C
  hgvsp: ENST00000457866.2:c.2080T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000265602
  ensembl transcript: ENST00000265602
  gene symbol: AHI1
  hgvsc: ENST00000265602.6:c.2080T>C
  hgvsp: ENST00000265602.6:c.2080T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356774
  ensembl transcript: ENST00000367800
  gene symbol: AHI1
  hgvsc: ENST00000367800.4:c.2080T>C
  hgvsp: ENST00000367800.4:c.2080T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356773
  ensembl transcript: ENST00000367799
  gene symbol: AHI1
  hgvsc: ENST00000367799.2:c.579T>C
  hgvsp: ENST00000367799.2:c.579T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000322478
  ensembl transcript: ENST00000327035
  gene symbol: AHI1
  hgvsc: ENST00000327035.6:c.2080T>C
  hgvsp: ENST00000327035.6:c.2080T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000432167
  ensembl transcript: ENST00000531788
  gene symbol: AHI1
  hgvsc: ENST00000531788.1:c.*283T>C
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000435710
  ensembl transcript: ENST00000475846
  gene symbol: AHI1
  hgvsc: ENST00000475846.2:c.272T>C
  hgvsp: ENST00000475846.2:c.272T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000416867
  ensembl transcript: ENST00000417892
  gene symbol: AHI1
  hgvsc: ENST00000417892.2:c.142T>C
  hgvsp: ENST00000417892.2:c.142T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21575
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23191
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7105
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26904
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5836
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu694Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff

6-135754354-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135754354
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 135754354
    reference: chr 6
allele count: 1
allele frequency: 8.351846593281774e-6
allele num: 119734
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000322478
  ensembl transcript: ENST00000327035
  gene symbol: AHI1
  hgvsc: ENST00000327035.6:c.2077G>A
  hgvsp: ENSP00000322478.6:p.Val693Ile
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000416867
  ensembl transcript: ENST00000417892
  gene symbol: AHI1
  hgvsc: ENST00000417892.2:c.139G>A
  hgvsp: ENSP00000416867.2:p.Val47Ile
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000432167
  ensembl transcript: ENST00000531788
  gene symbol: AHI1
  hgvsc: ENST00000531788.1:c.*280G>A
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000435710
  ensembl transcript: ENST00000475846
  gene symbol: AHI1
  hgvsc: ENST00000475846.2:c.269G>A
  hgvsp: ENSP00000435710.1:p.Val91Ile
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000265602
  ensembl transcript: ENST00000265602
  gene symbol: AHI1
  hgvsc: ENST00000265602.6:c.2077G>A
  hgvsp: ENSP00000265602.6:p.Val693Ile
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356774
  ensembl transcript: ENST00000367800
  gene symbol: AHI1
  hgvsc: ENST00000367800.4:c.2077G>A
  hgvsp: ENSP00000356774.4:p.Val693Ile
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000388650
  ensembl transcript: ENST00000457866
  gene symbol: AHI1
  hgvsc: ENST00000457866.2:c.2077G>A
  hgvsp: ENSP00000388650.2:p.Val693Ile
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356773
  ensembl transcript: ENST00000367799
  gene symbol: AHI1
  hgvsc: ENST00000367799.2:c.576G>A
  hgvsp: ENSP00000356773.2:p.Val193Ile
  variant of: http://identifiers.org/hgnc/21575
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7105
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23060
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26858
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49868
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Val693Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS

6-135754357-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135754357
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 135754357
    reference: chr 6
allele count: 2
allele frequency: 1.679712433231431e-5
allele num: 119068
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000388650
  ensembl transcript: ENST00000457866
  gene symbol: AHI1
  hgvsc: ENST00000457866.2:c.2074A>G
  hgvsp: ENSP00000388650.2:p.Arg692Gly
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000416867
  ensembl transcript: ENST00000417892
  gene symbol: AHI1
  hgvsc: ENST00000417892.2:c.136A>G
  hgvsp: ENSP00000416867.2:p.Arg46Gly
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000265602
  ensembl transcript: ENST00000265602
  gene symbol: AHI1
  hgvsc: ENST00000265602.6:c.2074A>G
  hgvsp: ENSP00000265602.6:p.Arg692Gly
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356774
  ensembl transcript: ENST00000367800
  gene symbol: AHI1
  hgvsc: ENST00000367800.4:c.2074A>G
  hgvsp: ENSP00000356774.4:p.Arg692Gly
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000432167
  ensembl transcript: ENST00000531788
  gene symbol: AHI1
  hgvsc: ENST00000531788.1:c.*277A>G
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000435710
  ensembl transcript: ENST00000475846
  gene symbol: AHI1
  hgvsc: ENST00000475846.2:c.266A>G
  hgvsp: ENSP00000435710.1:p.Arg90Gly
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000322478
  ensembl transcript: ENST00000327035
  gene symbol: AHI1
  hgvsc: ENST00000327035.6:c.2074A>G
  hgvsp: ENSP00000322478.6:p.Arg692Gly
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356773
  ensembl transcript: ENST00000367799
  gene symbol: AHI1
  hgvsc: ENST00000367799.2:c.573A>G
  hgvsp: ENSP00000356773.2:p.Arg192Gly
  variant of: http://identifiers.org/hgnc/21575
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26729
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22550
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7076
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg692Gly
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD

6-135754362-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135754362
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 135754362
    reference: chr 6
allele count: 1
allele frequency: 8.451370812345762e-6
allele num: 118324
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356773
  ensembl transcript: ENST00000367799
  gene symbol: AHI1
  hgvsc: ENST00000367799.2:c.568C>T
  hgvsp: ENSP00000356773.2:p.Thr190Ile
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000388650
  ensembl transcript: ENST00000457866
  gene symbol: AHI1
  hgvsc: ENST00000457866.2:c.2069C>T
  hgvsp: ENSP00000388650.2:p.Thr690Ile
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000416867
  ensembl transcript: ENST00000417892
  gene symbol: AHI1
  hgvsc: ENST00000417892.2:c.131C>T
  hgvsp: ENSP00000416867.2:p.Thr44Ile
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000322478
  ensembl transcript: ENST00000327035
  gene symbol: AHI1
  hgvsc: ENST00000327035.6:c.2069C>T
  hgvsp: ENSP00000322478.6:p.Thr690Ile
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000265602
  ensembl transcript: ENST00000265602
  gene symbol: AHI1
  hgvsc: ENST00000265602.6:c.2069C>T
  hgvsp: ENSP00000265602.6:p.Thr690Ile
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000432167
  ensembl transcript: ENST00000531788
  gene symbol: AHI1
  hgvsc: ENST00000531788.1:c.*272C>T
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000435710
  ensembl transcript: ENST00000475846
  gene symbol: AHI1
  hgvsc: ENST00000475846.2:c.261C>T
  hgvsp: ENSP00000435710.1:p.Thr88Ile
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356774
  ensembl transcript: ENST00000367800
  gene symbol: AHI1
  hgvsc: ENST00000367800.4:c.2069C>T
  hgvsp: ENSP00000356774.4:p.Thr690Ile
  variant of: http://identifiers.org/hgnc/21575
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26552
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7014
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22022
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 972
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5658
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 807
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Thr690Ile
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

6-135754364-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135754364
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 135754364
    reference: chr 6
allele count: 1
allele frequency: 8.476443962228966e-6
allele num: 117974
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000265602
  ensembl transcript: ENST00000265602
  gene symbol: AHI1
  hgvsc: ENST00000265602.6:c.2067T>C
  hgvsp: ENST00000265602.6:c.2067T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000435710
  ensembl transcript: ENST00000475846
  gene symbol: AHI1
  hgvsc: ENST00000475846.2:c.259T>C
  hgvsp: ENST00000475846.2:c.259T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356773
  ensembl transcript: ENST00000367799
  gene symbol: AHI1
  hgvsc: ENST00000367799.2:c.566T>C
  hgvsp: ENST00000367799.2:c.566T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000432167
  ensembl transcript: ENST00000531788
  gene symbol: AHI1
  hgvsc: ENST00000531788.1:c.*270T>C
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000416867
  ensembl transcript: ENST00000417892
  gene symbol: AHI1
  hgvsc: ENST00000417892.2:c.129T>C
  hgvsp: ENST00000417892.2:c.129T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000388650
  ensembl transcript: ENST00000457866
  gene symbol: AHI1
  hgvsc: ENST00000457866.2:c.2067T>C
  hgvsp: ENST00000457866.2:c.2067T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000322478
  ensembl transcript: ENST00000327035
  gene symbol: AHI1
  hgvsc: ENST00000327035.6:c.2067T>C
  hgvsp: ENST00000327035.6:c.2067T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356774
  ensembl transcript: ENST00000367800
  gene symbol: AHI1
  hgvsc: ENST00000367800.4:c.2067T>C
  hgvsp: ENST00000367800.4:c.2067T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21575
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21807
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6970
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26475
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 806
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 934
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asn689Asn
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: Other
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD

6-135754365-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135754365
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 135754365
    reference: chr 6
allele count: 1
allele frequency: 8.535627710061798e-6
allele num: 117156
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000322478
  ensembl transcript: ENST00000327035
  gene symbol: AHI1
  hgvsc: ENST00000327035.6:c.2066A>G
  hgvsp: ENSP00000322478.6:p.Asn689Ser
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000265602
  ensembl transcript: ENST00000265602
  gene symbol: AHI1
  hgvsc: ENST00000265602.6:c.2066A>G
  hgvsp: ENSP00000265602.6:p.Asn689Ser
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000416867
  ensembl transcript: ENST00000417892
  gene symbol: AHI1
  hgvsc: ENST00000417892.2:c.128A>G
  hgvsp: ENSP00000416867.2:p.Asn43Ser
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356773
  ensembl transcript: ENST00000367799
  gene symbol: AHI1
  hgvsc: ENST00000367799.2:c.565A>G
  hgvsp: ENSP00000356773.2:p.Asn189Ser
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000388650
  ensembl transcript: ENST00000457866
  gene symbol: AHI1
  hgvsc: ENST00000457866.2:c.2066A>G
  hgvsp: ENSP00000388650.2:p.Asn689Ser
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356774
  ensembl transcript: ENST00000367800
  gene symbol: AHI1
  hgvsc: ENST00000367800.4:c.2066A>G
  hgvsp: ENSP00000356774.4:p.Asn689Ser
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000435710
  ensembl transcript: ENST00000475846
  gene symbol: AHI1
  hgvsc: ENST00000475846.2:c.258A>G
  hgvsp: ENSP00000435710.1:p.Asn87Ser
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000432167
  ensembl transcript: ENST00000531788
  gene symbol: AHI1
  hgvsc: ENST00000531788.1:c.*269A>G
  variant of: http://identifiers.org/hgnc/21575
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26265
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6954
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1711
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21139
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asn689Ser
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: T
site quality: FS
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

6-135754371-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135754371
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 135754371
    reference: chr 6
allele count: 1
allele frequency: 8.636473555117974e-6
allele num: 115788
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000265602
  ensembl transcript: ENST00000265602
  gene symbol: AHI1
  hgvsc: ENST00000265602.6:c.2060A>G
  hgvsp: ENSP00000265602.6:p.Asn687Ser
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000388650
  ensembl transcript: ENST00000457866
  gene symbol: AHI1
  hgvsc: ENST00000457866.2:c.2060A>G
  hgvsp: ENSP00000388650.2:p.Asn687Ser
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000432167
  ensembl transcript: ENST00000531788
  gene symbol: AHI1
  hgvsc: ENST00000531788.1:c.*263A>G
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000416867
  ensembl transcript: ENST00000417892
  gene symbol: AHI1
  hgvsc: ENST00000417892.2:c.122A>G
  hgvsp: ENSP00000416867.2:p.Asn41Ser
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356773
  ensembl transcript: ENST00000367799
  gene symbol: AHI1
  hgvsc: ENST00000367799.2:c.559A>G
  hgvsp: ENSP00000356773.2:p.Asn187Ser
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000435710
  ensembl transcript: ENST00000475846
  gene symbol: AHI1
  hgvsc: ENST00000475846.2:c.252A>G
  hgvsp: ENSP00000435710.1:p.Asn85Ser
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356774
  ensembl transcript: ENST00000367800
  gene symbol: AHI1
  hgvsc: ENST00000367800.4:c.2060A>G
  hgvsp: ENSP00000356774.4:p.Asn687Ser
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000322478
  ensembl transcript: ENST00000327035
  gene symbol: AHI1
  hgvsc: ENST00000327035.6:c.2060A>G
  hgvsp: ENSP00000322478.6:p.Asn687Ser
  variant of: http://identifiers.org/hgnc/21575
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2458
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20139
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25811
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2373
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6791
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5385
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asn687Ser
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff

6-135754379-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135754379
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 135754379
    reference: chr 6
allele count: 2
allele frequency: 1.791440497303882e-5
allele num: 111642
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000388650
  ensembl transcript: ENST00000457866
  gene symbol: AHI1
  hgvsc: ENST00000457866.2:c.2052A>G
  hgvsp: ENST00000457866.2:c.2052A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000416867
  ensembl transcript: ENST00000417892
  gene symbol: AHI1
  hgvsc: ENST00000417892.2:c.114A>G
  hgvsp: ENST00000417892.2:c.114A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000435710
  ensembl transcript: ENST00000475846
  gene symbol: AHI1
  hgvsc: ENST00000475846.2:c.244A>G
  hgvsp: ENST00000475846.2:c.244A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356773
  ensembl transcript: ENST00000367799
  gene symbol: AHI1
  hgvsc: ENST00000367799.2:c.551A>G
  hgvsp: ENST00000367799.2:c.551A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000432167
  ensembl transcript: ENST00000531788
  gene symbol: AHI1
  hgvsc: ENST00000531788.1:c.*255A>G
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356774
  ensembl transcript: ENST00000367800
  gene symbol: AHI1
  hgvsc: ENST00000367800.4:c.2052A>G
  hgvsp: ENST00000367800.4:c.2052A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000265602
  ensembl transcript: ENST00000265602
  gene symbol: AHI1
  hgvsc: ENST00000265602.6:c.2052A>G
  hgvsp: ENST00000265602.6:c.2052A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000322478
  ensembl transcript: ENST00000327035
  gene symbol: AHI1
  hgvsc: ENST00000327035.6:c.2052A>G
  hgvsp: ENST00000327035.6:c.2052A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21575
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17440
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4978
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6216
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24126
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4348
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 774
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu684Glu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

6-135754392-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135754392
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 135754392
    reference: chr 6
allele count: 5
allele frequency: 4.9349572632701e-5
allele num: 101318
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000265602
  ensembl transcript: ENST00000265602
  gene symbol: AHI1
  hgvsc: ENST00000265602.6:c.2039T>C
  hgvsp: ENSP00000265602.6:p.Ile680Thr
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000322478
  ensembl transcript: ENST00000327035
  gene symbol: AHI1
  hgvsc: ENST00000327035.6:c.2039T>C
  hgvsp: ENSP00000322478.6:p.Ile680Thr
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356773
  ensembl transcript: ENST00000367799
  gene symbol: AHI1
  hgvsc: ENST00000367799.2:c.538T>C
  hgvsp: ENSP00000356773.2:p.Ile180Thr
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000416867
  ensembl transcript: ENST00000417892
  gene symbol: AHI1
  hgvsc: ENST00000417892.2:c.101T>C
  hgvsp: ENSP00000416867.2:p.Ile34Thr
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356774
  ensembl transcript: ENST00000367800
  gene symbol: AHI1
  hgvsc: ENST00000367800.4:c.2039T>C
  hgvsp: ENSP00000356774.4:p.Ile680Thr
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000435710
  ensembl transcript: ENST00000475846
  gene symbol: AHI1
  hgvsc: ENST00000475846.2:c.231T>C
  hgvsp: ENSP00000435710.1:p.Ile78Thr
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000432167
  ensembl transcript: ENST00000531788
  gene symbol: AHI1
  hgvsc: ENST00000531788.1:c.*242T>C
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000388650
  ensembl transcript: ENST00000457866
  gene symbol: AHI1
  hgvsc: ENST00000457866.2:c.2039T>C
  hgvsp: ENSP00000388650.2:p.Ile680Thr
  variant of: http://identifiers.org/hgnc/21575
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8987
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17720
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12397
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4274
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12549
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 970
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19149
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ile680Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

6-135754393-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135754393
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 135754393
    reference: chr 6
allele count: 1
allele frequency: 9.874787692064621e-6
allele num: 101268
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000265602
  ensembl transcript: ENST00000265602
  gene symbol: AHI1
  hgvsc: ENST00000265602.6:c.2038A>G
  hgvsp: ENSP00000265602.6:p.Ile680Val
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000416867
  ensembl transcript: ENST00000417892
  gene symbol: AHI1
  hgvsc: ENST00000417892.2:c.100A>G
  hgvsp: ENSP00000416867.2:p.Ile34Val
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000322478
  ensembl transcript: ENST00000327035
  gene symbol: AHI1
  hgvsc: ENST00000327035.6:c.2038A>G
  hgvsp: ENSP00000322478.6:p.Ile680Val
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000432167
  ensembl transcript: ENST00000531788
  gene symbol: AHI1
  hgvsc: ENST00000531788.1:c.*241A>G
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000435710
  ensembl transcript: ENST00000475846
  gene symbol: AHI1
  hgvsc: ENST00000475846.2:c.230A>G
  hgvsp: ENSP00000435710.1:p.Ile78Val
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356773
  ensembl transcript: ENST00000367799
  gene symbol: AHI1
  hgvsc: ENST00000367799.2:c.537A>G
  hgvsp: ENSP00000356773.2:p.Ile180Val
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356774
  ensembl transcript: ENST00000367800
  gene symbol: AHI1
  hgvsc: ENST00000367800.4:c.2038A>G
  hgvsp: ENSP00000356774.4:p.Ile680Val
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000388650
  ensembl transcript: ENST00000457866
  gene symbol: AHI1
  hgvsc: ENST00000457866.2:c.2038A>G
  hgvsp: ENSP00000388650.2:p.Ile680Val
  variant of: http://identifiers.org/hgnc/21575
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9007
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4234
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12416
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12573
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17719
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1774
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29600
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ile680Val
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

6-135754401-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135754401
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 135754401
    reference: chr 6
allele count: 7
allele frequency: 7.448868836061038e-5
allele num: 93974
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000435710
  ensembl transcript: ENST00000475846
  gene symbol: AHI1
  hgvsc: ENST00000475846.2:c.229-7T>C
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356773
  ensembl transcript: ENST00000367799
  gene symbol: AHI1
  hgvsc: ENST00000367799.2:c.536-7T>C
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000265602
  ensembl transcript: ENST00000265602
  gene symbol: AHI1
  hgvsc: ENST00000265602.6:c.2037-7T>C
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000416867
  ensembl transcript: ENST00000417892
  gene symbol: AHI1
  hgvsc: ENST00000417892.2:c.99-7T>C
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356774
  ensembl transcript: ENST00000367800
  gene symbol: AHI1
  hgvsc: ENST00000367800.4:c.2037-7T>C
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000322478
  ensembl transcript: ENST00000327035
  gene symbol: AHI1
  hgvsc: ENST00000327035.6:c.2037-7T>C
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000432167
  ensembl transcript: ENST00000531788
  gene symbol: AHI1
  hgvsc: ENST00000531788.1:c.*240-7T>C
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000388650
  ensembl transcript: ENST00000457866
  gene symbol: AHI1
  hgvsc: ENST00000457866.2:c.2037-7T>C
  variant of: http://identifiers.org/hgnc/21575
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11708
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2423
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2973
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18413
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12309
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9111
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2359
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26307
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1661
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 1.75e1
  variant carriers: 0
hgvs: c.2037-7T>C
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

6-135754405-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135754405
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 135754405
    reference: chr 6
allele count: 1
allele frequency: 1.091989167467459e-5
allele num: 91576
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356774
  ensembl transcript: ENST00000367800
  gene symbol: AHI1
  hgvsc: ENST00000367800.4:c.2037-11T>C
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000416867
  ensembl transcript: ENST00000417892
  gene symbol: AHI1
  hgvsc: ENST00000417892.2:c.99-11T>C
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000322478
  ensembl transcript: ENST00000327035
  gene symbol: AHI1
  hgvsc: ENST00000327035.6:c.2037-11T>C
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000265602
  ensembl transcript: ENST00000265602
  gene symbol: AHI1
  hgvsc: ENST00000265602.6:c.2037-11T>C
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356773
  ensembl transcript: ENST00000367799
  gene symbol: AHI1
  hgvsc: ENST00000367799.2:c.536-11T>C
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000388650
  ensembl transcript: ENST00000457866
  gene symbol: AHI1
  hgvsc: ENST00000457866.2:c.2037-11T>C
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000435710
  ensembl transcript: ENST00000475846
  gene symbol: AHI1
  hgvsc: ENST00000475846.2:c.229-11T>C
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000432167
  ensembl transcript: ENST00000531788
  gene symbol: AHI1
  hgvsc: ENST00000531788.1:c.*240-11T>C
  variant of: http://identifiers.org/hgnc/21575
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10670
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2576
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8025
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20199
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12469
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1857
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2612
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2203
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1910
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28344
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2111
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum

6-135754425-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135754425
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 135754425
    reference: chr 6
allele count: 1
allele frequency: 1.316517022565102e-5
allele num: 75958
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000435710
  ensembl transcript: ENST00000475846
  gene symbol: AHI1
  hgvsc: ENST00000475846.2:c.229-31A>C
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000322478
  ensembl transcript: ENST00000327035
  gene symbol: AHI1
  hgvsc: ENST00000327035.6:c.2037-31A>C
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000388650
  ensembl transcript: ENST00000457866
  gene symbol: AHI1
  hgvsc: ENST00000457866.2:c.2037-31A>C
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000265602
  ensembl transcript: ENST00000265602
  gene symbol: AHI1
  hgvsc: ENST00000265602.6:c.2037-31A>C
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000432167
  ensembl transcript: ENST00000531788
  gene symbol: AHI1
  hgvsc: ENST00000531788.1:c.*240-31A>C
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356774
  ensembl transcript: ENST00000367800
  gene symbol: AHI1
  hgvsc: ENST00000367800.4:c.2037-31A>C
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356773
  ensembl transcript: ENST00000367799
  gene symbol: AHI1
  hgvsc: ENST00000367799.2:c.536-31A>C
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000416867
  ensembl transcript: ENST00000417892
  gene symbol: AHI1
  hgvsc: ENST00000417892.2:c.99-31A>C
  variant of: http://identifiers.org/hgnc/21575
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5655
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3072
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15742
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5888
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24803
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7282
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1556
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4886
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30085
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1756
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 668
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: T
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

6-135759464-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135759464
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 135759464
    reference: chr 6
allele count: 2
allele frequency: 3.550632012498225e-5
allele num: 56328
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000265602
  ensembl transcript: ENST00000265602
  gene symbol: AHI1
  hgvsc: ENST00000265602.6:c.2036+49A>C
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000322478
  ensembl transcript: ENST00000327035
  gene symbol: AHI1
  hgvsc: ENST00000327035.6:c.2036+49A>C
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000435710
  ensembl transcript: ENST00000475846
  gene symbol: AHI1
  hgvsc: ENST00000475846.2:c.228+49A>C
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000388650
  ensembl transcript: ENST00000457866
  gene symbol: AHI1
  hgvsc: ENST00000457866.2:c.2036+49A>C
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356774
  ensembl transcript: ENST00000367800
  gene symbol: AHI1
  hgvsc: ENST00000367800.4:c.2036+49A>C
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000432167
  ensembl transcript: ENST00000531788
  gene symbol: AHI1
  hgvsc: ENST00000531788.1:c.*163+49A>C
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356773
  ensembl transcript: ENST00000367799
  gene symbol: AHI1
  hgvsc: ENST00000367799.2:c.535+49A>C
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000416867
  ensembl transcript: ENST00000417892
  gene symbol: AHI1
  hgvsc: ENST00000417892.2:c.98+49A>C
  variant of: http://identifiers.org/hgnc/21575
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11616
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26109
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5820
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4274
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6029
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2963
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4545
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5024
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3290
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2703
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6389
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

6-135759471-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135759471
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 135759471
    reference: chr 6
allele count: 2
allele frequency: 3.599841606969293e-5
allele num: 55558
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000322478
  ensembl transcript: ENST00000327035
  gene symbol: AHI1
  hgvsc: ENST00000327035.6:c.2036+42G>A
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356774
  ensembl transcript: ENST00000367800
  gene symbol: AHI1
  hgvsc: ENST00000367800.4:c.2036+42G>A
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000435710
  ensembl transcript: ENST00000475846
  gene symbol: AHI1
  hgvsc: ENST00000475846.2:c.228+42G>A
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000416867
  ensembl transcript: ENST00000417892
  gene symbol: AHI1
  hgvsc: ENST00000417892.2:c.98+42G>A
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000388650
  ensembl transcript: ENST00000457866
  gene symbol: AHI1
  hgvsc: ENST00000457866.2:c.2036+42G>A
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000265602
  ensembl transcript: ENST00000265602
  gene symbol: AHI1
  hgvsc: ENST00000265602.6:c.2036+42G>A
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000356773
  ensembl transcript: ENST00000367799
  gene symbol: AHI1
  hgvsc: ENST00000367799.2:c.535+42G>A
  variant of: http://identifiers.org/hgnc/21575
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135541
  ensembl protein: ENSP00000432167
  ensembl transcript: ENST00000531788
  gene symbol: AHI1
  hgvsc: ENST00000531788.1:c.*163+42G>A
  variant of: http://identifiers.org/hgnc/21575
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3106
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26372
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11352
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4605
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5762
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 336
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1042
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 874
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6375
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 451
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 675
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 269
bin: 9.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2782
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12338
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1894
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 1.279754287176862e-4
allele num: 7814
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.54e0

QD
type: SiteQuality
SIO_000300: 1.16e1

VQSLOD
type: SiteQuality
SIO_000300: 2.0e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.97e-2

DP
type: SiteQuality
SIO_000300: 6.47902e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.110000000000001e-1

GenotypeQuality
all individuals: 332
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 800
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29128
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2243
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 152
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 352
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1488
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1595
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 779
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 416
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 1.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30252
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4438
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3550
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4164
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 3.442340791738382e-4
allele num: 5810
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 476
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9824
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.45e0

FS
type: SiteQuality
SIO_000300: 1.886e0

VQSLOD
type: SiteQuality
SIO_000300: 9.360000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.575e1

MQRankSum
type: SiteQuality
SIO_000300: 1.39e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 4.18e0

DP
type: SiteQuality
SIO_000300: 9.52144e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 710
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25493
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 434
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 507
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24136
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1126
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 515
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 349
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 699
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 432
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 434
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2241
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 35198
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6446
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.584052137243626e-5
allele num: 10434
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5610
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4014
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 526
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5002
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.6e-2

DP
type: SiteQuality
SIO_000300: 1.018364e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.976e0

FS
type: SiteQuality
SIO_000300: 3.378e0

QD
type: SiteQuality
SIO_000300: 6.77e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.65e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.898e0

MQRankSum
type: SiteQuality
SIO_000300: 2.14e0

GenotypeQuality
all individuals: 360
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2241
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 455
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 574
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28031
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 822
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 22047
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 423
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 535
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 455
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1751
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 538
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 39918
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6982
num of homozygotes: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.748251748251748e-3
allele num: 572
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4460
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11090
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5744
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.9e-2

QD
type: SiteQuality
SIO_000300: 1.186e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-3

FS
type: SiteQuality
SIO_000300: 3.211e0

DP
type: SiteQuality
SIO_000300: 1.08101e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.79e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.65e-1

GenotypeQuality
all individuals: 29
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19307
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 652
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 485
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 635
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2241
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 562
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 454
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30782
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1870
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6282
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4786
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7396
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7418
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.592541673827119e-5
allele num: 11638
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43926
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.130479e6

MQRankSum
type: SiteQuality
SIO_000300: 5.94e-1

QD
type: SiteQuality
SIO_000300: 5.86e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.22e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 5.94e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.047e0

VQSLOD
type: SiteQuality
SIO_000300: -3.054e0

FS
type: SiteQuality
SIO_000300: 1.721e0

MQ
type: SiteQuality
SIO_000300: 5.849e1

GenotypeQuality
all individuals: 531
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 551
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 699
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 595
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1899
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 555
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2240
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 470
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 321
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45834
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7590
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7800
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11948
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6530
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 642
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4960
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.818e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 6.39e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.16e-1

QD
type: SiteQuality
SIO_000300: 7.89e0

FS
type: SiteQuality
SIO_000300: 7.28e-1

DP
type: SiteQuality
SIO_000300: 1.156973e6

VQSLOD
type: SiteQuality
SIO_000300: -6.75e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.74e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

GenotypeQuality
all individuals: 83
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 414
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 503
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 467
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18600
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 607
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2241
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 32160
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1897
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7638
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7816
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11968
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4966
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6552
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.170233083033118e-5
allele num: 46078
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 644
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

VQSLOD
type: SiteQuality
SIO_000300: -4.963e-1

QD
type: SiteQuality
SIO_000300: 1.094e1

MQRankSum
type: SiteQuality
SIO_000300: -1.703e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.6e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.3e0

DP
type: SiteQuality
SIO_000300: 1.155337e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.44e-1

GenotypeQuality
all individuals: 448
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 522
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 969
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21871
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 359
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 348
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 557
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 349
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 876
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 498
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.259580621836587e-5
allele num: 44256
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7422
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4740
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7424
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11702
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 618
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6266
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

QD
type: SiteQuality
SIO_000300: 3.97e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.77e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.713e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.12e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.9e-2

DP
type: SiteQuality
SIO_000300: 1.107543e6

GenotypeQuality
all individuals: 1020
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 385
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 585
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1164
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 413
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 434
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 337
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 515
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23200
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2241
bin: 9.75e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.623849817357932e-5
allele num: 43254
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7216
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6122
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7336
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11580
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 606
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4636
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.086653e6

QD
type: SiteQuality
SIO_000300: 1.131e1

VQSLOD
type: SiteQuality
SIO_000300: 8.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

MQRankSum
type: SiteQuality
SIO_000300: -3.64e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -7.42e-1

FS
type: SiteQuality
SIO_000300: 1.115e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.7e-1

GenotypeQuality
all individuals: 24959
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1051
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 330
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 343
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 599
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 429
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 671
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2239
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 510
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 404
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1750
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6080
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4598
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7326
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.326880119136262e-5
allele num: 42976
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7186
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 604
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -3.512e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.19e-1

QD
type: SiteQuality
SIO_000300: 3.64e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.19e-1

FS
type: SiteQuality
SIO_000300: 2.158e0

MQRankSum
type: SiteQuality
SIO_000300: -2.021e0

DP
type: SiteQuality
SIO_000300: 1.080464e6

GenotypeQuality
all individuals: 433
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2250
bin: 9.75e1
variant carriers: 12

GenotypeQuality
all individuals: 1699
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 626
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1191
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 495
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 418
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1198
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 344
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 519
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25044
bin: 2.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6934
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 2.391200382592061e-4
allele num: 41820
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 2.775464890369137e-4
allele num: 7206
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5942
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 590
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4508
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.802e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.67e0

QD
type: SiteQuality
SIO_000300: 1.037e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.37e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 9.6e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.32e-1

DP
type: SiteQuality
SIO_000300: 1.055561e6

GenotypeQuality
all individuals: 1860
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4042
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 697
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1166
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32211
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 331
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11558
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 453
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 359
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2239
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34206
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10448
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.601024655779699e-4
allele num: 6246
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4736
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5062
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 502
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4000
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.66e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.1e-3

FS
type: SiteQuality
SIO_000300: 3.358e0

VQSLOD
type: SiteQuality
SIO_000300: -1.903e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.57e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.24e0

QD
type: SiteQuality
SIO_000300: 2.862e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

DP
type: SiteQuality
SIO_000300: 8.81092e5

GenotypeQuality
all individuals: 3614
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 611
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 954
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1175
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23787
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 319
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2236
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 334
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 428
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2494
bin: 3.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3216
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 416
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2888
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4916
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3136
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.078968836678088e-5
allele num: 24516
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9104
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 7.28604e5

QD
type: SiteQuality
SIO_000300: 7.5e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -5.659999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.26e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.92e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -7.756e-1

GenotypeQuality
all individuals: 320
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 313
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 427
bin: 7.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 153
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2755
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22206
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2235
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 946
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4788
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2676
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 402
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 23572
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3154
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9010
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3020
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.147e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.01e0

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

DP
type: SiteQuality
SIO_000300: 7.14102e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

GenotypeQuality
all individuals: 19890
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 319
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 814
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2236
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 924
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 321
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 420
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13493
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1434
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5097
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2834
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4622
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 384
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 4.074979625101874e-4
allele num: 2454
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 22580
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8894
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3078
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.63e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.52e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.4e-2

QD
type: SiteQuality
SIO_000300: 6.32e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.766e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.4e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 6.98836e5

VQSLOD
type: SiteQuality
SIO_000300: -5.548999999999999e-1

GenotypeQuality
all individuals: 39693
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1277
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1932
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1097
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1345
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1810
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 638
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 361
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1573
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1196
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11422
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.85002466699556e-4
allele num: 16216
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65424
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.032204789430223e-4
allele num: 9688
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8314
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.37e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.44e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.84e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.28e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.05e-1

QD
type: SiteQuality
SIO_000300: 1.539e1

DP
type: SiteQuality
SIO_000300: 1.517304e6

GenotypeQuality
all individuals: 819
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1490
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1570
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 63
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1159
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1110
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 663
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1236
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 506
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5586
bin: 6.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8326
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65478
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.030502885408079e-4
allele num: 9704
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16232
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.638e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.27e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.582e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

MQRankSum
type: SiteQuality
SIO_000300: -3.07e-1

QD
type: SiteQuality
SIO_000300: 1.496e1

DP
type: SiteQuality
SIO_000300: 1.533297e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.12e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.007e0

GenotypeQuality
all individuals: 73
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5499
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 514
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 549
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 572
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1107
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1048
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 629
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1569
bin: 9.75e1
variant carriers: 1

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

African
type: Population
allele count: 1
allele frequency: 1.030078285949732e-4
allele num: 9708
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8328
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65466
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -7.08e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.568e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.091e0

QD
type: SiteQuality
SIO_000300: 1.151e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.8e-2

FS
type: SiteQuality
SIO_000300: 8.581e0

VQSLOD
type: SiteQuality
SIO_000300: -2.567e-1

MQ
type: SiteQuality
SIO_000300: 5.952e1

DP
type: SiteQuality
SIO_000300: 1.539776e6

GenotypeQuality
all individuals: 1125
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 502
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1618
bin: 9.75e1
variant carriers: 49

GenotypeQuality
all individuals: 101
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47968
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1056
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 587
bin: 8.25e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66152
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9750
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
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: 51
allele frequency: 3.116597408946468e-3
allele num: 16364
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8518
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.63e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.887e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.3e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.18e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.07e-1

QD
type: SiteQuality
SIO_000300: 1.316e1

DP
type: SiteQuality
SIO_000300: 1.586054e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.8e-3

GenotypeQuality
all individuals: 31
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 592
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5901
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1148
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1577
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 24
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 367
bin: 9.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.505992970650966e-5
allele num: 66578
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: 16480
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9796
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 3.478e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

VQSLOD
type: SiteQuality
SIO_000300: 9.87e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.38e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -5.348e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.31e-2

DP
type: SiteQuality
SIO_000300: 1.598972e6

QD
type: SiteQuality
SIO_000300: 1.293e1

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49215
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 596
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1072
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 369
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1574
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1147
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 258
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500915558490679e-5
allele num: 66626
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: 896
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9796
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.514e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.919e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.59e0

FS
type: SiteQuality
SIO_000300: 1.929e0

MQRankSum
type: SiteQuality
SIO_000300: 6.830000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.14e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

VQSLOD
type: SiteQuality
SIO_000300: -6.610000000000001e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.599844e6

GenotypeQuality
all individuals: 10
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 49227
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5914
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 595
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1575
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 369
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1071
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1149
bin: 7.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9796
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.062075654704171e-5
allele num: 16496
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.269e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.52e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.3e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.895e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e0

VQSLOD
type: SiteQuality
SIO_000300: 4.6e-2

DP
type: SiteQuality
SIO_000300: 1.600229e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.253e0

QD
type: SiteQuality
SIO_000300: 1.183e1

GenotypeQuality
all individuals: 18
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49233
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1149
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

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

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

GenotypeQuality
all individuals: 94
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1576
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1069
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 370
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9796
num of homozygotes: 0

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.13e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.008e0

FS
type: SiteQuality
SIO_000300: 1.3206e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.17e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.3e-2

DP
type: SiteQuality
SIO_000300: 1.60047e6

QD
type: SiteQuality
SIO_000300: 1.325e1

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5913
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1576
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 596
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 370
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1069
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49233
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1149
bin: 7.25e1
variant carriers: 0

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

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9796
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.325e1

FS
type: SiteQuality
SIO_000300: 1.3206e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.3e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.17e0

VQSLOD
type: SiteQuality
SIO_000300: -1.008e0

MQRankSum
type: SiteQuality
SIO_000300: 1.13e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

DP
type: SiteQuality
SIO_000300: 1.60047e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

GenotypeQuality
all individuals: 1149
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5912
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1072
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 595
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 14
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 369
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1574
bin: 9.75e1
variant carriers: 1

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

Latino
type: Population
allele count: 1
allele frequency: 8.656509695290859e-5
allele num: 11552
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66658
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9794
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -1.048e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.908e1

QD
type: SiteQuality
SIO_000300: 1.256e1

MQRankSum
type: SiteQuality
SIO_000300: 2.23e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.4e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.74e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.96e-1

DP
type: SiteQuality
SIO_000300: 1.600893e6

GenotypeQuality
all individuals: 5909
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1150
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49333
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 370
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 598
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1575
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9796
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.655011251514626e-5
allele num: 11554
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: 0
allele frequency: 0.0e0
allele num: 66686
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: 16508
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 3.16e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.22e0

QD
type: SiteQuality
SIO_000300: 1.379e1

VQSLOD
type: SiteQuality
SIO_000300: -1.153e0

MQ
type: SiteQuality
SIO_000300: 5.87e1

MQRankSum
type: SiteQuality
SIO_000300: -8.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.41e-1

FS
type: SiteQuality
SIO_000300: 3.536e0

DP
type: SiteQuality
SIO_000300: 1.601569e6

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

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

GenotypeQuality
all individuals: 371
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1574
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 593
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1069
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1149
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499250374812594e-5
allele num: 66700
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 6.4e-2

MQ
type: SiteQuality
SIO_000300: 5.942e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.5e0

MQRankSum
type: SiteQuality
SIO_000300: -7.43e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.573e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.179e0

QD
type: SiteQuality
SIO_000300: 1.527e1

FS
type: SiteQuality
SIO_000300: 7.081e0

DP
type: SiteQuality
SIO_000300: 1.601968e6

GenotypeQuality
all individuals: 28
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 596
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1067
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 370
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1575
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 49385
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1149
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

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

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

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

Other
type: Population
allele count: 1
allele frequency: 1.11358574610245e-3
allele num: 898
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 2.706e1

VQSLOD
type: SiteQuality
SIO_000300: -1.797e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.14e-1

DP
type: SiteQuality
SIO_000300: 1.602116e6

FS
type: SiteQuality
SIO_000300: 1.176e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -4.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.72e0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 19
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49399
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 592
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1583
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 5904
bin: 6.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 5
allele frequency: 3.028467595396729e-4
allele num: 16510
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: 1.020408163265306e-4
allele num: 9800
num of homozygotes: 0

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

Latino
type: Population
allele count: 4
allele frequency: 3.459010722933241e-4
allele num: 11564
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.53e-1

DP
type: SiteQuality
SIO_000300: 1.602985e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.82e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.86e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.64e-1

QD
type: SiteQuality
SIO_000300: 1.367e1

GenotypeQuality
all individuals: 369
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 49421
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5902
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1574
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 257
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1147
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1061
bin: 7.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66712
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159823706796567e-4
allele num: 8622
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 7.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.71e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

VQSLOD
type: SiteQuality
SIO_000300: -1.298e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.65e-1

QD
type: SiteQuality
SIO_000300: 1.182e1

MQRankSum
type: SiteQuality
SIO_000300: 9.15e-1

DP
type: SiteQuality
SIO_000300: 1.602193e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.225e0

GenotypeQuality
all individuals: 802
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 946
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3834
bin: 9.75e1
variant carriers: 2876

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

GenotypeQuality
all individuals: 213
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5521
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 1

African
type: Population
allele count: 384
allele frequency: 3.918367346938775e-2
allele num: 9800
num of homozygotes: 8

South Asian
type: Population
allele count: 655
allele frequency: 3.967292549969716e-2
allele num: 16510
num of homozygotes: 27

East Asian
type: Population
allele count: 533
allele frequency: 6.184729635646322e-2
allele num: 8618
num of homozygotes: 25

Other
type: Population
allele count: 20
allele frequency: 2.2271714922049e-2
allele num: 898
num of homozygotes: 1

Latino
type: Population
allele count: 125
allele frequency: 1.081127832554921e-2
allele num: 11562
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 112
allele frequency: 1.694402420574886e-2
allele num: 6610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1119
allele frequency: 1.677359395610984e-2
allele num: 66712
num of homozygotes: 9

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.92e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.73e-1

QD
type: SiteQuality
SIO_000300: 1.285e1

DP
type: SiteQuality
SIO_000300: 1.870328e6

FS
type: SiteQuality
SIO_000300: 5.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.719e0

VQSLOD
type: SiteQuality
SIO_000300: 5.31e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.84e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 22
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 50778
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 862
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1007
bin: 9.75e1
variant carriers: 13

GenotypeQuality
all individuals: 145
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5919
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 4
allele frequency: 4.081632653061225e-4
allele num: 9800
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.349001738713352e-4
allele num: 66716
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 5.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.358e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.14e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.08e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.024e0

VQSLOD
type: SiteQuality
SIO_000300: 2.34e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.41e0

MQ
type: SiteQuality
SIO_000300: 5.952e1

DP
type: SiteQuality
SIO_000300: 1.589548e6

GenotypeQuality
all individuals: 3
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5920
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 863
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1006
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 224
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50790
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 995
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
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: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.723e-1

FS
type: SiteQuality
SIO_000300: 8.412000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.02e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.867e0

MQRankSum
type: SiteQuality
SIO_000300: 4.8e-1

DP
type: SiteQuality
SIO_000300: 1.588299e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.49e-1

QD
type: SiteQuality
SIO_000300: 1.217e1

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

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50788
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1006
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 994
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 381
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5922
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 863
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498666187093487e-5
allele num: 66726
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 8.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.102e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

DP
type: SiteQuality
SIO_000300: 1.588419e6

MQRankSum
type: SiteQuality
SIO_000300: -4.08e-1

FS
type: SiteQuality
SIO_000300: 3.232e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.52e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.39e-1

QD
type: SiteQuality
SIO_000300: 1.114e1

MQ
type: SiteQuality
SIO_000300: 5.951e1

GenotypeQuality
all individuals: 381
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 995
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 863
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1006
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5922
bin: 6.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.64902266043937e-5
allele num: 11562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498711108446736e-5
allele num: 66724
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
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: 16510
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

MQ
type: SiteQuality
SIO_000300: 5.936e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.99e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.51e-1

DP
type: SiteQuality
SIO_000300: 1.588437e6

QD
type: SiteQuality
SIO_000300: 1.506e1

MQRankSum
type: SiteQuality
SIO_000300: 5.46e-1

GenotypeQuality
all individuals: 1004
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 864
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50797
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 998
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 5925
bin: 6.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 3
allele frequency: 3.061224489795918e-4
allele num: 9800
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.59e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.5e0

MQRankSum
type: SiteQuality
SIO_000300: 1.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.52e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.76e-1

FS
type: SiteQuality
SIO_000300: 1.757e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

DP
type: SiteQuality
SIO_000300: 1.588668e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

QD
type: SiteQuality
SIO_000300: 1.247e1

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 996
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 145
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5926
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1004
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.160362032954282e-4
allele num: 8618
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: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66728
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.588439e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.939e1

MQRankSum
type: SiteQuality
SIO_000300: -6.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.913e0

VQSLOD
type: SiteQuality
SIO_000300: 3.92e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.11e-1

QD
type: SiteQuality
SIO_000300: 1.371e1

GenotypeQuality
all individuals: 1004
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50797
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 996
bin: 9.75e1
variant carriers: 2

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
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: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997242536866083e-5
allele num: 66728
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.11e-1

MQ
type: SiteQuality
SIO_000300: 5.939e1

QD
type: SiteQuality
SIO_000300: 1.371e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.5e-3

MQRankSum
type: SiteQuality
SIO_000300: -6.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

DP
type: SiteQuality
SIO_000300: 1.588439e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.913e0

VQSLOD
type: SiteQuality
SIO_000300: 3.92e0

GenotypeQuality
all individuals: 20
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 5926
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1004
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 994
bin: 9.75e1
variant carriers: 1

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
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: 16510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498621268433042e-5
allele num: 66728
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 6.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.64e-2

MQRankSum
type: SiteQuality
SIO_000300: 6.899999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.2e-1

DP
type: SiteQuality
SIO_000300: 1.588234e6

FS
type: SiteQuality
SIO_000300: 2.818e0

MQ
type: SiteQuality
SIO_000300: 5.809e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.85e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.8e0

QD
type: SiteQuality
SIO_000300: 1.593e1

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 862
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50800
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 5925
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 378
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1003
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 994
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.968e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.11e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.393e1

VQSLOD
type: SiteQuality
SIO_000300: 1.48e0

MQRankSum
type: SiteQuality
SIO_000300: -5.03e-1

DP
type: SiteQuality
SIO_000300: 1.58837e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.421e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.88e-1

GenotypeQuality
all individuals: 19
bin: 7.5e0
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 378
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 994
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 50800
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1003
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 862
bin: 7.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.64902266043937e-5
allele num: 11562
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.020408163265306e-4
allele num: 9800
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.421e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.11e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.48e0

QD
type: SiteQuality
SIO_000300: 1.393e1

MQRankSum
type: SiteQuality
SIO_000300: -5.03e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

DP
type: SiteQuality
SIO_000300: 1.58837e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.88e-1

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

GenotypeQuality
all individuals: 9
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 29
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50789
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1002
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 994
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 378
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 2
allele frequency: 2.320724065908564e-4
allele num: 8618
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 1.2945e1

DP
type: SiteQuality
SIO_000300: 1.588119e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.46e0

MQ
type: SiteQuality
SIO_000300: 5.961e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.18e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.83e0

VQSLOD
type: SiteQuality
SIO_000300: -1.983e0

QD
type: SiteQuality
SIO_000300: 1.913e1

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

GenotypeQuality
all individuals: 31
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5927
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 860
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 377
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1001
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 992
bin: 9.75e1
variant carriers: 3

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 3
allele frequency: 3.481086098862845e-4
allele num: 8618
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

FS
type: SiteQuality
SIO_000300: 1.14e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.03e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -6.861e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.59e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.6e-2

QD
type: SiteQuality
SIO_000300: 1.147e1

DP
type: SiteQuality
SIO_000300: 1.58824e6

MQ
type: SiteQuality
SIO_000300: 5.965e1

GenotypeQuality
all individuals: 377
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 223
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5927
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50790
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 990
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1002
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498756032493031e-5
allele num: 66722
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.496e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.14e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -6.830000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.28e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.61e0

DP
type: SiteQuality
SIO_000300: 1.587844e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.96e-1

GenotypeQuality
all individuals: 8
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 997
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50771
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 20
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 859
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5924
bin: 6.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 37
allele frequency: 2.24106602059358e-3
allele num: 16510
num of homozygotes: 2

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66718
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.466e1

MQ
type: SiteQuality
SIO_000300: 5.964e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.23e-2

DP
type: SiteQuality
SIO_000300: 1.591422e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.95e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.41e0

MQRankSum
type: SiteQuality
SIO_000300: 4.86e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.22e0

FS
type: SiteQuality
SIO_000300: 0.0e0

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

GenotypeQuality
all individuals: 220
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 377
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 997
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 984
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498845888665727e-5
allele num: 66718
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.22e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

FS
type: SiteQuality
SIO_000300: 4.02e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.26e0

QD
type: SiteQuality
SIO_000300: 1.36e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.8e-2

DP
type: SiteQuality
SIO_000300: 1.587817e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.17e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.56e0

VQSLOD
type: SiteQuality
SIO_000300: 1.4e0

GenotypeQuality
all individuals: 50794
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 857
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 987
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 143
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 378
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5931
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 997
bin: 7.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.995203836930456e-5
allele num: 66720
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.64902266043937e-5
allele num: 11562
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 9.15e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.78e-1

MQ
type: SiteQuality
SIO_000300: 5.929e1

VQSLOD
type: SiteQuality
SIO_000300: 6.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

DP
type: SiteQuality
SIO_000300: 1.587864e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.03e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.57e-1

FS
type: SiteQuality
SIO_000300: 5.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.87e0

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 33
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5926
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 983
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 377
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 996
bin: 7.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

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

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.587777e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.37e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

QD
type: SiteQuality
SIO_000300: 1.517e1

VQSLOD
type: SiteQuality
SIO_000300: 1.05e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.2e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.73e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.01e-1

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

GenotypeQuality
all individuals: 57
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 219
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 983
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 376
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 999
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 142
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5922
bin: 6.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
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: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66704
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.683e1

MQRankSum
type: SiteQuality
SIO_000300: -1.142e0

VQSLOD
type: SiteQuality
SIO_000300: -6.659e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.79e0

FS
type: SiteQuality
SIO_000300: 2.288e0

MQ
type: SiteQuality
SIO_000300: 5.987e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.921e0

DP
type: SiteQuality
SIO_000300: 1.587241e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.34e0

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 219
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 855
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

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

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

GenotypeQuality
all individuals: 984
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 996
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50753
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 7.5e0
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211387038158692e-4
allele num: 16510
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: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66688
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 2.45e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.775e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.03e-1

FS
type: SiteQuality
SIO_000300: 2.68e0

VQSLOD
type: SiteQuality
SIO_000300: 7.28e-1

MQ
type: SiteQuality
SIO_000300: 5.943e1

QD
type: SiteQuality
SIO_000300: 9.869999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.89e-1

DP
type: SiteQuality
SIO_000300: 1.587061e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

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

GenotypeQuality
all individuals: 20
bin: 7.5e0
variant carriers: 0

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

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

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5918
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 996
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 142
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 855
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 372
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.498275396658768e-5
allele num: 66682
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.587133e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.74e0

FS
type: SiteQuality
SIO_000300: 4.788e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

QD
type: SiteQuality
SIO_000300: 1.311e1

MQRankSum
type: SiteQuality
SIO_000300: 9.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.33e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.64e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.52e-1

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

GenotypeQuality
all individuals: 856
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 372
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50757
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 981
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 7
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 995
bin: 7.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.161170459823502e-4
allele num: 8612
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66680
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.897e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.203e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

MQRankSum
type: SiteQuality
SIO_000300: -3.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.586774e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

FS
type: SiteQuality
SIO_000300: 1.611e0

QD
type: SiteQuality
SIO_000300: 1.281e1

GenotypeQuality
all individuals: 89
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 142
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 981
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 856
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 995
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50751
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 9.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499835018148004e-5
allele num: 66674
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 4.856e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -5.32e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.272e0

DP
type: SiteQuality
SIO_000300: 1.586726e6

MQ
type: SiteQuality
SIO_000300: 5.925e1

MQRankSum
type: SiteQuality
SIO_000300: 1.58e0

QD
type: SiteQuality
SIO_000300: 1.211e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.15e-1

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 370
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 845
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50691
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 142
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5909
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 979
bin: 9.75e1
variant carriers: 4

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.325581395348837e-4
allele num: 8600
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.665511265164645e-5
allele num: 11540
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500510173458976e-5
allele num: 66644
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.19e0

DP
type: SiteQuality
SIO_000300: 1.586377e6

VQSLOD
type: SiteQuality
SIO_000300: 1.42e0

QD
type: SiteQuality
SIO_000300: 1.192e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

MQRankSum
type: SiteQuality
SIO_000300: 7.34e-1

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 845
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 217
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 24
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 991
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 979
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66644
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

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

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 7.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 5.969e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.76e-1

QD
type: SiteQuality
SIO_000300: 1.192e1

VQSLOD
type: SiteQuality
SIO_000300: 1.42e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.19e0

DP
type: SiteQuality
SIO_000300: 1.586377e6

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

GenotypeQuality
all individuals: 22
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 29
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 838
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 983
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 977
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 28
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5899
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 366
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11516
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9778
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66572
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.21197430614471e-4
allele num: 16502
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: 6596
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.0e-2

QD
type: SiteQuality
SIO_000300: 1.265e1

FS
type: SiteQuality
SIO_000300: 3.203e0

MQ
type: SiteQuality
SIO_000300: 5.919e1

MQRankSum
type: SiteQuality
SIO_000300: 1.35e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.109e0

VQSLOD
type: SiteQuality
SIO_000300: 2.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.583794e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.120000000000001e-1

GenotypeQuality
all individuals: 963
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 712
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 360
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 975
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50009
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 820
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50934283213089e-5
allele num: 66254
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8562
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9736
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11466
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.84e0

FS
type: SiteQuality
SIO_000300: 1.71e0

DP
type: SiteQuality
SIO_000300: 1.576447e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.69e-1

MQ
type: SiteQuality
SIO_000300: 5.899e1

MQRankSum
type: SiteQuality
SIO_000300: 4.75e-1

QD
type: SiteQuality
SIO_000300: 9.960000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
all individuals: 33
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 37
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 961
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5821
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 974
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 360
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 859
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 820
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66136
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8548
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9724
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16434
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6562
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.741258741258741e-5
allele num: 11440
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -3.897e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.402e0

QD
type: SiteQuality
SIO_000300: 1.222e1

DP
type: SiteQuality
SIO_000300: 1.574214e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.44e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.0e0

MQRankSum
type: SiteQuality
SIO_000300: -8.129999999999999e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1399
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 49109
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5732
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 949
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 975
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 815
bin: 7.75e1
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: 9662
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8494
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.042102701387199e-5
allele num: 65744
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11370
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16360
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.237e1

MQRankSum
type: SiteQuality
SIO_000300: 5.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.641e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.19e0

DP
type: SiteQuality
SIO_000300: 1.565651e6

FS
type: SiteQuality
SIO_000300: 1.446e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.36e0

GenotypeQuality
all individuals: 31
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 936
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2044
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48427
bin: 6.25e1
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: 6538
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11312
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8428
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16266
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.531159087429184e-5
allele num: 65310
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9594
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -7.78e-1

QD
type: SiteQuality
SIO_000300: 9.609999999999999e0

DP
type: SiteQuality
SIO_000300: 1.55509e6

VQSLOD
type: SiteQuality
SIO_000300: -4.223e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.23e-1

FS
type: SiteQuality
SIO_000300: 3.123e0

MQ
type: SiteQuality
SIO_000300: 5.978e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.11e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.33e0

GenotypeQuality
all individuals: 82
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2330
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 972
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 48232
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 165
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 169
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5640
bin: 6.75e1
variant carriers: 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: 0
allele frequency: 0.0e0
allele num: 65090
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.191043353978085e-4
allele num: 8396
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16230
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11288
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9570
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.18e-1

MQ
type: SiteQuality
SIO_000300: 5.898e1

FS
type: SiteQuality
SIO_000300: 5.186e0

DP
type: SiteQuality
SIO_000300: 1.550207e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.51e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.67e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.115e0

QD
type: SiteQuality
SIO_000300: 1.606e1

VQSLOD
type: SiteQuality
SIO_000300: -1.463e0

GenotypeQuality
all individuals: 47072
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 16
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3074
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 971
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 223
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 911
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 352
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5505
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 366
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11190
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8310
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.548227279764669e-5
allele num: 64590
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9520
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: 16172
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.906e0

QD
type: SiteQuality
SIO_000300: 1.926e1

DP
type: SiteQuality
SIO_000300: 1.538783e6

MQRankSum
type: SiteQuality
SIO_000300: -6.820000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -3.023e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.312e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.02e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.42e0

GenotypeQuality
all individuals: 4465
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45805
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 307
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 971
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 155
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 99
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 777
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 890
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.2266500622665e-5
allele num: 16060
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63772
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11016
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9412
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8200
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.812e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.31e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.93e0

DP
type: SiteQuality
SIO_000300: 1.51583e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.163e0

QD
type: SiteQuality
SIO_000300: 6.27e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 9.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

GenotypeQuality
all individuals: 329
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4621
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 292
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8536
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 356
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 622
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41505
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 698
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 971
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 130
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6386
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7840
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15672
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.190100744634253e-4
allele num: 9132
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61242
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10542
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.434e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.82e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.9e-2

DP
type: SiteQuality
SIO_000300: 1.443855e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -3.7e-2

QD
type: SiteQuality
SIO_000300: 1.599e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.16e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e0

GenotypeQuality
all individuals: 33
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 698
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 677
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 391
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 576
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29355
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1331
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 576
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1492
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3267
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55280
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9092
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.417167851284855e-4
allele num: 14632
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8494
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7006
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6036
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.78e-1

QD
type: SiteQuality
SIO_000300: 1.27e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.01e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 7.96e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.234485e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.51e0

GenotypeQuality
all individuals: 3235
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 19197
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 704
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 677
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1325
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 380
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1485
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 566
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 965
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 1
allele frequency: 1.100594320933304e-4
allele num: 9086
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14612
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7002
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8488
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6036
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55268
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.547e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-3

DP
type: SiteQuality
SIO_000300: 1.233578e6

MQRankSum
type: SiteQuality
SIO_000300: -8.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.68e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.962e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.41e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.91e-1

GenotypeQuality
all individuals: 1978
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 961
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 112
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 273
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20332
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 876
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 444
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 712
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 445
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2240
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5786
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8068
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8144
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 716
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50938
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6414
num of homozygotes: 0

South Asian
type: Population
allele count: 7
allele frequency: 5.033074489502444e-4
allele num: 13908
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.6e-3

QD
type: SiteQuality
SIO_000300: 1.181e1

VQSLOD
type: SiteQuality
SIO_000300: 3.72e0

MQRankSum
type: SiteQuality
SIO_000300: 4.15e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.13e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.55e-1

DP
type: SiteQuality
SIO_000300: 1.071785e6

GenotypeQuality
all individuals: 336
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2622
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18115
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 894
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 949
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 105
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 377
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6200
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.017593414575095e-5
allele num: 49564
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7900
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5698
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7846
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 704
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13664
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.565e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

MQ
type: SiteQuality
SIO_000300: 5.925e1

VQSLOD
type: SiteQuality
SIO_000300: 6.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.5e-3

MQRankSum
type: SiteQuality
SIO_000300: -8.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 4.08e0

QD
type: SiteQuality
SIO_000300: 1.735e1

DP
type: SiteQuality
SIO_000300: 1.021223e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.122e0

GenotypeQuality
all individuals: 199
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4447
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1590
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 944
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 193
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4488
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 367
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5182
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.688048615800135e-4
allele num: 5924
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6720
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40338
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5074
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 608
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12112
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 7.70891e5

MQ
type: SiteQuality
SIO_000300: 5.766e1

VQSLOD
type: SiteQuality
SIO_000300: -1.971e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 6.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.62e-2

QD
type: SiteQuality
SIO_000300: 4.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.13e0

GenotypeQuality
all individuals: 23907
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1483
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2124
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 478
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1331
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2334
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2374
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 955
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1755
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 343
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.182929491377429e-4
allele num: 9162
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5594
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4320
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 472
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4038
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 29388
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3354
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.42e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.78e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 7.74376e5

MQRankSum
type: SiteQuality
SIO_000300: 6.48e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.68e0

QD
type: SiteQuality
SIO_000300: 9.699999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.12e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1