3-113497722-CTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113497722
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 113497720
    reference: chr 3
allele count: 1
allele frequency: 1.017956757196954e-5
allele num: 98236
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000420146
  ensembl transcript: ENST00000470455
  gene symbol: ATP6V1A
  hgvsc: ENST00000470455.1:c.82+42_82+43delTT
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000439874
  ensembl transcript: ENST00000538620
  gene symbol: ATP6V1A
  hgvsc: ENST00000538620.1:c.-70+42_-70+43delTT
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000273398
  ensembl transcript: ENST00000273398
  gene symbol: ATP6V1A
  hgvsc: ENST00000273398.3:c.82+42_82+43delTT
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000419294
  ensembl transcript: ENST00000475322
  gene symbol: ATP6V1A
  hgvsc: ENST00000475322.1:c.82+42_82+43delTT
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114573
  ensembl transcript: ENST00000462855
  gene symbol: ATP6V1A
  hgvsc: ENST00000462855.1:n.218_219delTT
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000417545
  ensembl transcript: ENST00000496747
  gene symbol: ATP6V1A
  hgvsc: ENST00000496747.1:c.-18+42_-18+43delTT
  variant of: http://identifiers.org/hgnc/851
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20848
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1652
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12783
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2814
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9441
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10317
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1336
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1693
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1307
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1397
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8070
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
reference allele: CTT
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

3-113497731-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113497731
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 113497731
    reference: chr 3
allele count: 1
allele frequency: 1.107002900347599e-5
allele num: 90334
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000417545
  ensembl transcript: ENST00000496747
  gene symbol: ATP6V1A
  hgvsc: ENST00000496747.1:c.-18+49A>G
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000419294
  ensembl transcript: ENST00000475322
  gene symbol: ATP6V1A
  hgvsc: ENST00000475322.1:c.82+49A>G
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000439874
  ensembl transcript: ENST00000538620
  gene symbol: ATP6V1A
  hgvsc: ENST00000538620.1:c.-70+49A>G
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114573
  ensembl transcript: ENST00000462855
  gene symbol: ATP6V1A
  hgvsc: ENST00000462855.1:n.225A>G
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000273398
  ensembl transcript: ENST00000273398
  gene symbol: ATP6V1A
  hgvsc: ENST00000273398.3:c.82+49A>G
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000420146
  ensembl transcript: ENST00000470455
  gene symbol: ATP6V1A
  hgvsc: ENST00000470455.1:c.82+49A>G
  variant of: http://identifiers.org/hgnc/851
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12971
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18417
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12405
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9818
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2513
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6178
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2987
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5283
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8285
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3451
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2559
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1517
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD

3-113499558-G-GT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113499558
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 113499559
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 11744
alternate allele: GT
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000273398
  ensembl transcript: ENST00000273398
  gene symbol: ATP6V1A
  hgvsc: ENST00000273398.3:c.83-331dupT
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000439874
  ensembl transcript: ENST00000538620
  gene symbol: ATP6V1A
  hgvsc: ENST00000538620.1:c.-69-13dupT
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000420146
  ensembl transcript: ENST00000470455
  gene symbol: ATP6V1A
  hgvsc: ENST00000470455.1:c.83-13dupT
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000419294
  ensembl transcript: ENST00000475322
  gene symbol: ATP6V1A
  hgvsc: ENST00000475322.1:c.83-331dupT
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000417545
  ensembl transcript: ENST00000496747
  gene symbol: ATP6V1A
  hgvsc: ENST00000496747.1:c.-17-331dupT
  variant of: http://identifiers.org/hgnc/851
canonical: true
consequence: intron
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2493
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3336
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1944
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3726
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

3-113499558-GT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113499558
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 113499557
    reference: chr 3
allele count: 1
allele frequency: 8.514986376021798e-5
allele num: 11744
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000439874
  ensembl transcript: ENST00000538620
  gene symbol: ATP6V1A
  hgvsc: ENST00000538620.1:c.-69-13delT
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000420146
  ensembl transcript: ENST00000470455
  gene symbol: ATP6V1A
  hgvsc: ENST00000470455.1:c.83-13delT
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000273398
  ensembl transcript: ENST00000273398
  gene symbol: ATP6V1A
  hgvsc: ENST00000273398.3:c.83-331delT
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000419294
  ensembl transcript: ENST00000475322
  gene symbol: ATP6V1A
  hgvsc: ENST00000475322.1:c.83-331delT
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000417545
  ensembl transcript: ENST00000496747
  gene symbol: ATP6V1A
  hgvsc: ENST00000496747.1:c.-17-331delT
  variant of: http://identifiers.org/hgnc/851
canonical: true
consequence: intron
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2493
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3336
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1944
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3726
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: GT
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

3-113499589-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113499589
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 113499589
    reference: chr 3
allele count: 1
allele frequency: 8.112932013629726e-5
allele num: 12326
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000273398
  ensembl transcript: ENST00000273398
  gene symbol: ATP6V1A
  hgvsc: ENST00000273398.3:c.83-308A>G
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000439874
  ensembl transcript: ENST00000538620
  gene symbol: ATP6V1A
  hgvsc: ENST00000538620.1:c.-59A>G
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000419294
  ensembl transcript: ENST00000475322
  gene symbol: ATP6V1A
  hgvsc: ENST00000475322.1:c.83-308A>G
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000417545
  ensembl transcript: ENST00000496747
  gene symbol: ATP6V1A
  hgvsc: ENST00000496747.1:c.-17-308A>G
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000420146
  ensembl transcript: ENST00000470455
  gene symbol: ATP6V1A
  hgvsc: ENST00000470455.1:c.93A>G
  hgvsp: ENST00000470455.1:c.93A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/851
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3378
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3732
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1759
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.25e1
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genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
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genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
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genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
  all individuals: 2
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genotype depth: GenotypeDepth
  all individuals: 0
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genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 252
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3
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genotype quality: GenotypeQuality
  all individuals: 24
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 3109
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro31Pro
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum

3-113499633-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113499633
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 113499633
    reference: chr 3
allele count: 5
allele frequency: 4.034210101662095e-4
allele num: 12394
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000420146
  ensembl transcript: ENST00000470455
  gene symbol: ATP6V1A
  hgvsc: ENST00000470455.1:c.134+3A>G
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000273398
  ensembl transcript: ENST00000273398
  gene symbol: ATP6V1A
  hgvsc: ENST00000273398.3:c.83-264A>G
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000417545
  ensembl transcript: ENST00000496747
  gene symbol: ATP6V1A
  hgvsc: ENST00000496747.1:c.-17-264A>G
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000419294
  ensembl transcript: ENST00000475322
  gene symbol: ATP6V1A
  hgvsc: ENST00000475322.1:c.83-264A>G
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000439874
  ensembl transcript: ENST00000538620
  gene symbol: ATP6V1A
  hgvsc: ENST00000538620.1:c.-18+3A>G
  variant of: http://identifiers.org/hgnc/851
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4429
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3649
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1804
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 4000
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 24
  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
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genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 422
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 9
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genotype quality: GenotypeQuality
  all individuals: 4724
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 730
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 7.75e1
  variant carriers: 0
hgvs: c.-18+3A>G
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD

3-113499642-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113499642
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 113499642
    reference: chr 3
allele count: 1
allele frequency: 8.071025020177563e-5
allele num: 12390
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000420146
  ensembl transcript: ENST00000470455
  gene symbol: ATP6V1A
  hgvsc: ENST00000470455.1:c.134+12A>G
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000273398
  ensembl transcript: ENST00000273398
  gene symbol: ATP6V1A
  hgvsc: ENST00000273398.3:c.83-255A>G
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000419294
  ensembl transcript: ENST00000475322
  gene symbol: ATP6V1A
  hgvsc: ENST00000475322.1:c.83-255A>G
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000417545
  ensembl transcript: ENST00000496747
  gene symbol: ATP6V1A
  hgvsc: ENST00000496747.1:c.-17-255A>G
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000439874
  ensembl transcript: ENST00000538620
  gene symbol: ATP6V1A
  hgvsc: ENST00000538620.1:c.-18+12A>G
  variant of: http://identifiers.org/hgnc/851
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
  all individuals: 5
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 32
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genotype quality: GenotypeQuality
  all individuals: 74
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genotype quality: GenotypeQuality
  all individuals: 639
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 186
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: DP

3-113499673-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113499673
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 113499673
    reference: chr 3
allele count: 12
allele frequency: 9.62000962000962e-4
allele num: 12474
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000417545
  ensembl transcript: ENST00000496747
  gene symbol: ATP6V1A
  hgvsc: ENST00000496747.1:c.-17-224A>G
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000420146
  ensembl transcript: ENST00000470455
  gene symbol: ATP6V1A
  hgvsc: ENST00000470455.1:c.134+43A>G
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000273398
  ensembl transcript: ENST00000273398
  gene symbol: ATP6V1A
  hgvsc: ENST00000273398.3:c.83-224A>G
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000419294
  ensembl transcript: ENST00000475322
  gene symbol: ATP6V1A
  hgvsc: ENST00000475322.1:c.83-224A>G
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000439874
  ensembl transcript: ENST00000538620
  gene symbol: ATP6V1A
  hgvsc: ENST00000538620.1:c.-18+43A>G
  variant of: http://identifiers.org/hgnc/851
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 1385
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 3
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 436
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 162
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff

3-113499854-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113499854
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 113499854
    reference: chr 3
allele count: 1
allele frequency: 8.860064146864424e-6
allele num: 112866
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000419294
  ensembl transcript: ENST00000475322
  gene symbol: ATP6V1A
  hgvsc: ENST00000475322.1:c.83-43A>G
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000420146
  ensembl transcript: ENST00000470455
  gene symbol: ATP6V1A
  hgvsc: ENST00000470455.1:c.135-43A>G
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000439874
  ensembl transcript: ENST00000538620
  gene symbol: ATP6V1A
  hgvsc: ENST00000538620.1:c.-17-43A>G
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000273398
  ensembl transcript: ENST00000273398
  gene symbol: ATP6V1A
  hgvsc: ENST00000273398.3:c.83-43A>G
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000417545
  ensembl transcript: ENST00000496747
  gene symbol: ATP6V1A
  hgvsc: ENST00000496747.1:c.-17-43A>G
  variant of: http://identifiers.org/hgnc/851
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
  all individuals: 3000
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 626
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/3-113499866-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113499866
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 113499866
    reference: chr 3
allele count: 1
allele frequency: 8.83033396323049e-6
allele num: 113246
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000419294
  ensembl transcript: ENST00000475322
  gene symbol: ATP6V1A
  hgvsc: ENST00000475322.1:c.83-31A>C
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000417545
  ensembl transcript: ENST00000496747
  gene symbol: ATP6V1A
  hgvsc: ENST00000496747.1:c.-17-31A>C
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000273398
  ensembl transcript: ENST00000273398
  gene symbol: ATP6V1A
  hgvsc: ENST00000273398.3:c.83-31A>C
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000420146
  ensembl transcript: ENST00000470455
  gene symbol: ATP6V1A
  hgvsc: ENST00000470455.1:c.135-31A>C
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000439874
  ensembl transcript: ENST00000538620
  gene symbol: ATP6V1A
  hgvsc: ENST00000538620.1:c.-17-31A>C
  variant of: http://identifiers.org/hgnc/851
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3469
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 300
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

3-113499872-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113499872
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 113499872
    reference: chr 3
allele count: 1
allele frequency: 8.797241185164333e-6
allele num: 113672
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000419294
  ensembl transcript: ENST00000475322
  gene symbol: ATP6V1A
  hgvsc: ENST00000475322.1:c.83-25C>G
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000273398
  ensembl transcript: ENST00000273398
  gene symbol: ATP6V1A
  hgvsc: ENST00000273398.3:c.83-25C>G
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000417545
  ensembl transcript: ENST00000496747
  gene symbol: ATP6V1A
  hgvsc: ENST00000496747.1:c.-17-25C>G
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000420146
  ensembl transcript: ENST00000470455
  gene symbol: ATP6V1A
  hgvsc: ENST00000470455.1:c.135-25C>G
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000439874
  ensembl transcript: ENST00000538620
  gene symbol: ATP6V1A
  hgvsc: ENST00000538620.1:c.-17-25C>G
  variant of: http://identifiers.org/hgnc/851
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1718
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3373
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

3-113499874-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113499874
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 113499874
    reference: chr 3
allele count: 1
allele frequency: 8.77778167901408e-6
allele num: 113924
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000273398
  ensembl transcript: ENST00000273398
  gene symbol: ATP6V1A
  hgvsc: ENST00000273398.3:c.83-23A>G
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000417545
  ensembl transcript: ENST00000496747
  gene symbol: ATP6V1A
  hgvsc: ENST00000496747.1:c.-17-23A>G
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000439874
  ensembl transcript: ENST00000538620
  gene symbol: ATP6V1A
  hgvsc: ENST00000538620.1:c.-17-23A>G
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000420146
  ensembl transcript: ENST00000470455
  gene symbol: ATP6V1A
  hgvsc: ENST00000470455.1:c.135-23A>G
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000419294
  ensembl transcript: ENST00000475322
  gene symbol: ATP6V1A
  hgvsc: ENST00000475322.1:c.83-23A>G
  variant of: http://identifiers.org/hgnc/851
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

3-113499875-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113499875
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 113499875
    reference: chr 3
allele count: 1
allele frequency: 8.772391529378739e-6
allele num: 113994
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000273398
  ensembl transcript: ENST00000273398
  gene symbol: ATP6V1A
  hgvsc: ENST00000273398.3:c.83-22A>G
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000419294
  ensembl transcript: ENST00000475322
  gene symbol: ATP6V1A
  hgvsc: ENST00000475322.1:c.83-22A>G
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000417545
  ensembl transcript: ENST00000496747
  gene symbol: ATP6V1A
  hgvsc: ENST00000496747.1:c.-17-22A>G
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000420146
  ensembl transcript: ENST00000470455
  gene symbol: ATP6V1A
  hgvsc: ENST00000470455.1:c.135-22A>G
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000439874
  ensembl transcript: ENST00000538620
  gene symbol: ATP6V1A
  hgvsc: ENST00000538620.1:c.-17-22A>G
  variant of: http://identifiers.org/hgnc/851
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3056
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5536
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10024
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3333
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12605
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1804
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16409
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3431
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5406
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19231
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2614
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1964
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8242
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

3-113499877-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113499877
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 113499877
    reference: chr 3
allele count: 1
allele frequency: 8.761784600287387e-6
allele num: 114132
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000273398
  ensembl transcript: ENST00000273398
  gene symbol: ATP6V1A
  hgvsc: ENST00000273398.3:c.83-20T>C
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000439874
  ensembl transcript: ENST00000538620
  gene symbol: ATP6V1A
  hgvsc: ENST00000538620.1:c.-17-20T>C
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000417545
  ensembl transcript: ENST00000496747
  gene symbol: ATP6V1A
  hgvsc: ENST00000496747.1:c.-17-20T>C
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000420146
  ensembl transcript: ENST00000470455
  gene symbol: ATP6V1A
  hgvsc: ENST00000470455.1:c.135-20T>C
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000419294
  ensembl transcript: ENST00000475322
  gene symbol: ATP6V1A
  hgvsc: ENST00000475322.1:c.83-20T>C
  variant of: http://identifiers.org/hgnc/851
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3062
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16522
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3295
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1721
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5539
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12611
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10087
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4213
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8263
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2624
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3729
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5428
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1965
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/3-113499891-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113499891
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 113499891
    reference: chr 3
allele count: 1
allele frequency: 8.654262224145391e-6
allele num: 115550
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000273398
  ensembl transcript: ENST00000273398
  gene symbol: ATP6V1A
  hgvsc: ENST00000273398.3:c.83-6C>A
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000417545
  ensembl transcript: ENST00000496747
  gene symbol: ATP6V1A
  hgvsc: ENST00000496747.1:c.-17-6C>A
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000420146
  ensembl transcript: ENST00000470455
  gene symbol: ATP6V1A
  hgvsc: ENST00000470455.1:c.135-6C>A
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000419294
  ensembl transcript: ENST00000475322
  gene symbol: ATP6V1A
  hgvsc: ENST00000475322.1:c.83-6C>A
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000439874
  ensembl transcript: ENST00000538620
  gene symbol: ATP6V1A
  hgvsc: ENST00000538620.1:c.-17-6C>A
  variant of: http://identifiers.org/hgnc/851
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3082
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1734
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17294
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12829
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2715
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10291
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5598
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9310
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2953
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 47
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genotype quality: GenotypeQuality
  all individuals: 5508
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3774
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
hgvs: c.83-6C>A
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

3-113499902-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113499902
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 113499902
    reference: chr 3
allele count: 1
allele frequency: 8.542627712284299e-6
allele num: 117060
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000439874
  ensembl transcript: ENST00000538620
  gene symbol: ATP6V1A
  hgvsc: ENST00000538620.1:c.-12A>G
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000417545
  ensembl transcript: ENST00000496747
  gene symbol: ATP6V1A
  hgvsc: ENST00000496747.1:c.-12A>G
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000273398
  ensembl transcript: ENST00000273398
  gene symbol: ATP6V1A
  hgvsc: ENST00000273398.3:c.88A>G
  hgvsp: ENSP00000273398.3:p.Thr30Ala
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000419294
  ensembl transcript: ENST00000475322
  gene symbol: ATP6V1A
  hgvsc: ENST00000475322.1:c.88A>G
  hgvsp: ENSP00000419294.1:p.Thr30Ala
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000420146
  ensembl transcript: ENST00000470455
  gene symbol: ATP6V1A
  hgvsc: ENST00000470455.1:c.140A>G
  hgvsp: ENSP00000420146.1:p.Tyr47Cys
  variant of: http://identifiers.org/hgnc/851
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5610
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1744
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3093
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2049
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10349
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18146
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12957
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8553
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4283
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5540
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20934
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2375
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Thr30Ala
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

3-113499919-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113499919
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 113499919
    reference: chr 3
allele count: 2
allele frequency: 1.706368165995495e-5
allele num: 117208
alternate allele: A
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000273398
  ensembl transcript: ENST00000273398
  gene symbol: ATP6V1A
  hgvsc: ENST00000273398.3:c.105G>A
  hgvsp: ENST00000273398.3:c.105G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000420146
  ensembl transcript: ENST00000470455
  gene symbol: ATP6V1A
  hgvsc: ENST00000470455.1:c.*7G>A
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000417545
  ensembl transcript: ENST00000496747
  gene symbol: ATP6V1A
  hgvsc: ENST00000496747.1:c.6G>A
  hgvsp: ENST00000496747.1:c.6G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000419294
  ensembl transcript: ENST00000475322
  gene symbol: ATP6V1A
  hgvsc: ENST00000475322.1:c.105G>A
  hgvsp: ENST00000475322.1:c.105G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000439874
  ensembl transcript: ENST00000538620
  gene symbol: ATP6V1A
  hgvsc: ENST00000538620.1:c.6G>A
  hgvsp: ENST00000538620.1:c.6G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/851
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3172
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2748
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3384
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1243
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2910
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6626
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4209
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8027
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3081
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5961
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3323
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3239
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1902
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2526
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3111
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3702
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6427
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2769
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1258
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1049
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17409
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2300
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5564
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1213
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala35Ala
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff

3-113499922-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113499922
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 113499922
    reference: chr 3
allele count: 5149
allele frequency: 9.496145476006049e-2
allele num: 54222
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000273398
  ensembl transcript: ENST00000273398
  gene symbol: ATP6V1A
  hgvsc: ENST00000273398.3:c.108T>G
  hgvsp: ENST00000273398.3:c.108T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000417545
  ensembl transcript: ENST00000496747
  gene symbol: ATP6V1A
  hgvsc: ENST00000496747.1:c.9T>G
  hgvsp: ENST00000496747.1:c.9T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000420146
  ensembl transcript: ENST00000470455
  gene symbol: ATP6V1A
  hgvsc: ENST00000470455.1:c.*10T>G
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000419294
  ensembl transcript: ENST00000475322
  gene symbol: ATP6V1A
  hgvsc: ENST00000475322.1:c.108T>G
  hgvsp: ENST00000475322.1:c.108T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000439874
  ensembl transcript: ENST00000538620
  gene symbol: ATP6V1A
  hgvsc: ENST00000538620.1:c.9T>G
  hgvsp: ENST00000538620.1:c.9T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/851
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 9209
  bin: 2.25e1
  variant carriers: 411
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 6.75e1
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 4257
  bin: 4.25e1
  variant carriers: 693
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 5.75e1
  variant carriers: 178
genotype depth: GenotypeDepth
  all individuals: 2592
  bin: 4.75e1
  variant carriers: 479
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8919
  bin: 3.25e1
  variant carriers: 938
genotype depth: GenotypeDepth
  all individuals: 1716
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 3684
  bin: 1.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 1688
  bin: 5.25e1
  variant carriers: 314
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.25e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 5730
  bin: 1.75e1
  variant carriers: 137
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 8.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.75e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 6474
  bin: 3.75e1
  variant carriers: 917
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 9.75e1
  variant carriers: 75
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 6.25e1
  variant carriers: 121
genotype depth: GenotypeDepth
  all individuals: 10104
  bin: 2.75e1
  variant carriers: 792
genotype quality: GenotypeQuality
  all individuals: 1838
  bin: 3.25e1
  variant carriers: 124
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 8.75e1
  variant carriers: 186
genotype quality: GenotypeQuality
  all individuals: 1853
  bin: 7.5e0
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 4916
  bin: 2.25e1
  variant carriers: 71
genotype quality: GenotypeQuality
  all individuals: 2015
  bin: 2.75e1
  variant carriers: 102
genotype quality: GenotypeQuality
  all individuals: 821
  bin: 7.25e1
  variant carriers: 200
genotype quality: GenotypeQuality
  all individuals: 1246
  bin: 4.75e1
  variant carriers: 190
genotype quality: GenotypeQuality
  all individuals: 1237
  bin: 4.25e1
  variant carriers: 163
genotype quality: GenotypeQuality
  all individuals: 1506
  bin: 6.75e1
  variant carriers: 213
genotype quality: GenotypeQuality
  all individuals: 1928
  bin: 1.25e1
  variant carriers: 48
genotype quality: GenotypeQuality
  all individuals: 26536
  bin: 2.5e0
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 3641
  bin: 6.25e1
  variant carriers: 217
genotype quality: GenotypeQuality
  all individuals: 1114
  bin: 5.25e1
  variant carriers: 206
genotype quality: GenotypeQuality
  all individuals: 1856
  bin: 1.75e1
  variant carriers: 59
hgvs: p.Gly36Gly
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD

3-113499923-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113499923
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 113499923
    reference: chr 3
allele count: 1
allele frequency: 8.537376634907625e-6
allele num: 117132
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000439874
  ensembl transcript: ENST00000538620
  gene symbol: ATP6V1A
  hgvsc: ENST00000538620.1:c.10G>A
  hgvsp: ENSP00000439874.1:p.Ala4Thr
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000420146
  ensembl transcript: ENST00000470455
  gene symbol: ATP6V1A
  hgvsc: ENST00000470455.1:c.*11G>A
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000417545
  ensembl transcript: ENST00000496747
  gene symbol: ATP6V1A
  hgvsc: ENST00000496747.1:c.10G>A
  hgvsp: ENSP00000417545.1:p.Ala4Thr
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000419294
  ensembl transcript: ENST00000475322
  gene symbol: ATP6V1A
  hgvsc: ENST00000475322.1:c.109G>A
  hgvsp: ENSP00000419294.1:p.Ala37Thr
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000273398
  ensembl transcript: ENST00000273398
  gene symbol: ATP6V1A
  hgvsc: ENST00000273398.3:c.109G>A
  hgvsp: ENSP00000273398.3:p.Ala37Thr
  variant of: http://identifiers.org/hgnc/851
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5492
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1648
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9139
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3656
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4923
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3204
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6987
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8439
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9913
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2169
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1701
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5440
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3842
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3200
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2931
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1623
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1638
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8081
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4096
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala37Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/3-113499924-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113499924
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 113499924
    reference: chr 3
allele count: 3
allele frequency: 2.615746795710175e-5
allele num: 114690
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000273398
  ensembl transcript: ENST00000273398
  gene symbol: ATP6V1A
  hgvsc: ENST00000273398.3:c.110C>A
  hgvsp: ENSP00000273398.3:p.Ala37Glu
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000439874
  ensembl transcript: ENST00000538620
  gene symbol: ATP6V1A
  hgvsc: ENST00000538620.1:c.11C>A
  hgvsp: ENSP00000439874.1:p.Ala4Glu
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000419294
  ensembl transcript: ENST00000475322
  gene symbol: ATP6V1A
  hgvsc: ENST00000475322.1:c.110C>A
  hgvsp: ENSP00000419294.1:p.Ala37Glu
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000420146
  ensembl transcript: ENST00000470455
  gene symbol: ATP6V1A
  hgvsc: ENST00000470455.1:c.*12C>A
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000417545
  ensembl transcript: ENST00000496747
  gene symbol: ATP6V1A
  hgvsc: ENST00000496747.1:c.11C>A
  hgvsp: ENSP00000417545.1:p.Ala4Glu
  variant of: http://identifiers.org/hgnc/851
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 10090
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4900
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3174
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1901
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9328
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5301
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6880
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3723
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9015
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1220
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1734
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8431
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1866
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2079
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2993
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3861
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5116
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1089
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1671
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala37Glu
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: C
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

3-113499924-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113499924
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 113499924
    reference: chr 3
allele count: 88
allele frequency: 7.672857267416514e-4
allele num: 114690
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000417545
  ensembl transcript: ENST00000496747
  gene symbol: ATP6V1A
  hgvsc: ENST00000496747.1:c.11C>G
  hgvsp: ENSP00000417545.1:p.Ala4Gly
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000420146
  ensembl transcript: ENST00000470455
  gene symbol: ATP6V1A
  hgvsc: ENST00000470455.1:c.*12C>G
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000419294
  ensembl transcript: ENST00000475322
  gene symbol: ATP6V1A
  hgvsc: ENST00000475322.1:c.110C>G
  hgvsp: ENSP00000419294.1:p.Ala37Gly
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000439874
  ensembl transcript: ENST00000538620
  gene symbol: ATP6V1A
  hgvsc: ENST00000538620.1:c.11C>G
  hgvsp: ENSP00000439874.1:p.Ala4Gly
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000273398
  ensembl transcript: ENST00000273398
  gene symbol: ATP6V1A
  hgvsc: ENST00000273398.3:c.110C>G
  hgvsp: ENSP00000273398.3:p.Ala37Gly
  variant of: http://identifiers.org/hgnc/851
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 3174
  bin: 4.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 5301
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10090
  bin: 2.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 9328
  bin: 2.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9015
  bin: 3.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3723
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4900
  bin: 4.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6880
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1901
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1220
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 7.5e0
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1734
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15332
  bin: 9.75e1
  variant carriers: 44
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 2.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 1.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1837
  bin: 5.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2993
  bin: 7.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 3532
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 8431
  bin: 6.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1671
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2079
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 1.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2762
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala37Gly
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

3-113499925-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113499925
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 113499925
    reference: chr 3
allele count: 6
allele frequency: 5.11892980240931e-5
allele num: 117212
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000419294
  ensembl transcript: ENST00000475322
  gene symbol: ATP6V1A
  hgvsc: ENST00000475322.1:c.111A>G
  hgvsp: ENST00000475322.1:c.111A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000439874
  ensembl transcript: ENST00000538620
  gene symbol: ATP6V1A
  hgvsc: ENST00000538620.1:c.12A>G
  hgvsp: ENST00000538620.1:c.12A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000417545
  ensembl transcript: ENST00000496747
  gene symbol: ATP6V1A
  hgvsc: ENST00000496747.1:c.12A>G
  hgvsp: ENST00000496747.1:c.12A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000420146
  ensembl transcript: ENST00000470455
  gene symbol: ATP6V1A
  hgvsc: ENST00000470455.1:c.*13A>G
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000273398
  ensembl transcript: ENST00000273398
  gene symbol: ATP6V1A
  hgvsc: ENST00000273398.3:c.111A>G
  hgvsp: ENST00000273398.3:c.111A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/851
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 10370
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3219
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9285
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3557
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7038
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10065
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1927
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1620
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4967
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3740
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1428
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1139
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10492
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1158
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16145
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6214
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4369
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1385
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3410
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3338
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 5.75e1
  variant carriers: 1
hgvs: p.Ala37Ala
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff

3-113499926-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113499926
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 113499926
    reference: chr 3
allele count: 1
allele frequency: 8.509189925119129e-6
allele num: 117520
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000419294
  ensembl transcript: ENST00000475322
  gene symbol: ATP6V1A
  hgvsc: ENST00000475322.1:c.112G>T
  hgvsp: ENSP00000419294.1:p.Ala38Ser
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000417545
  ensembl transcript: ENST00000496747
  gene symbol: ATP6V1A
  hgvsc: ENST00000496747.1:c.13G>T
  hgvsp: ENSP00000417545.1:p.Ala5Ser
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000420146
  ensembl transcript: ENST00000470455
  gene symbol: ATP6V1A
  hgvsc: ENST00000470455.1:c.*14G>T
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000273398
  ensembl transcript: ENST00000273398
  gene symbol: ATP6V1A
  hgvsc: ENST00000273398.3:c.112G>T
  hgvsp: ENSP00000273398.3:p.Ala38Ser
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000439874
  ensembl transcript: ENST00000538620
  gene symbol: ATP6V1A
  hgvsc: ENST00000538620.1:c.13G>T
  hgvsp: ENSP00000439874.1:p.Ala5Ser
  variant of: http://identifiers.org/hgnc/851
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 7097
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10508
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3233
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10757
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3382
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2855
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4987
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1929
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9452
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3469
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 886
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4440
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6427
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3068
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1021
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3044
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16213
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ala38Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/3-113499929-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113499929
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 113499929
    reference: chr 3
allele count: 78
allele frequency: 6.658016935263589e-4
allele num: 117152
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000439874
  ensembl transcript: ENST00000538620
  gene symbol: ATP6V1A
  hgvsc: ENST00000538620.1:c.16A>C
  hgvsp: ENSP00000439874.1:p.Met6Leu
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000273398
  ensembl transcript: ENST00000273398
  gene symbol: ATP6V1A
  hgvsc: ENST00000273398.3:c.115A>C
  hgvsp: ENSP00000273398.3:p.Met39Leu
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000417545
  ensembl transcript: ENST00000496747
  gene symbol: ATP6V1A
  hgvsc: ENST00000496747.1:c.16A>C
  hgvsp: ENSP00000417545.1:p.Met6Leu
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000419294
  ensembl transcript: ENST00000475322
  gene symbol: ATP6V1A
  hgvsc: ENST00000475322.1:c.115A>C
  hgvsp: ENSP00000419294.1:p.Met39Leu
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000420146
  ensembl transcript: ENST00000470455
  gene symbol: ATP6V1A
  hgvsc: ENST00000470455.1:c.*17A>C
  variant of: http://identifiers.org/hgnc/851
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 10755
  bin: 2.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2600
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1471
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12233
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 9887
  bin: 3.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 3257
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7269
  bin: 3.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5069
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1933
  bin: 5.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 4.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2315
  bin: 2.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2353
  bin: 8.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 4050
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1004
  bin: 3.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 925
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3513
  bin: 7.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 806
  bin: 2.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 6654
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 4.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 4460
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 1.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3073
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 2.5e0
  variant carriers: 1
hgvs: p.Met39Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum

3-113499942-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113499942
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 113499942
    reference: chr 3
allele count: 7
allele frequency: 5.874257326038065e-5
allele num: 119164
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000439874
  ensembl transcript: ENST00000538620
  gene symbol: ATP6V1A
  hgvsc: ENST00000538620.1:c.29T>G
  hgvsp: ENSP00000439874.1:p.Val10Gly
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000273398
  ensembl transcript: ENST00000273398
  gene symbol: ATP6V1A
  hgvsc: ENST00000273398.3:c.128T>G
  hgvsp: ENSP00000273398.3:p.Val43Gly
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000419294
  ensembl transcript: ENST00000475322
  gene symbol: ATP6V1A
  hgvsc: ENST00000475322.1:c.128T>G
  hgvsp: ENSP00000419294.1:p.Val43Gly
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000420146
  ensembl transcript: ENST00000470455
  gene symbol: ATP6V1A
  hgvsc: ENST00000470455.1:c.*30T>G
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000417545
  ensembl transcript: ENST00000496747
  gene symbol: ATP6V1A
  hgvsc: ENST00000496747.1:c.29T>G
  hgvsp: ENSP00000417545.1:p.Val10Gly
  variant of: http://identifiers.org/hgnc/851
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1959
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5128
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7439
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14495
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 11186
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3337
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10458
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1026
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 3.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 16040
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3772
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2478
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 7.5e0
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 4753
  bin: 7.75e1
  variant carriers: 1
hgvs: p.Val43Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: African
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ

3-113499943-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113499943
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 113499943
    reference: chr 3
allele count: 1
allele frequency: 8.351986102295126e-6
allele num: 119732
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000419294
  ensembl transcript: ENST00000475322
  gene symbol: ATP6V1A
  hgvsc: ENST00000475322.1:c.129G>A
  hgvsp: ENST00000475322.1:c.129G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000417545
  ensembl transcript: ENST00000496747
  gene symbol: ATP6V1A
  hgvsc: ENST00000496747.1:c.30G>A
  hgvsp: ENST00000496747.1:c.30G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000273398
  ensembl transcript: ENST00000273398
  gene symbol: ATP6V1A
  hgvsc: ENST00000273398.3:c.129G>A
  hgvsp: ENST00000273398.3:c.129G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000439874
  ensembl transcript: ENST00000538620
  gene symbol: ATP6V1A
  hgvsc: ENST00000538620.1:c.30G>A
  hgvsp: ENST00000538620.1:c.30G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000420146
  ensembl transcript: ENST00000470455
  gene symbol: ATP6V1A
  hgvsc: ENST00000470455.1:c.*31G>A
  variant of: http://identifiers.org/hgnc/851
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7445
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11200
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3340
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1980
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14675
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10468
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5131
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 916
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4797
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16555
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7345
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3301
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2510
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val43Val
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

3-113499948-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113499948
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 113499948
    reference: chr 3
allele count: 3
allele frequency: 2.49912530614285e-5
allele num: 120042
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000419294
  ensembl transcript: ENST00000475322
  gene symbol: ATP6V1A
  hgvsc: ENST00000475322.1:c.134T>G
  hgvsp: ENSP00000419294.1:p.Val45Gly
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000273398
  ensembl transcript: ENST00000273398
  gene symbol: ATP6V1A
  hgvsc: ENST00000273398.3:c.134T>G
  hgvsp: ENSP00000273398.3:p.Val45Gly
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000439874
  ensembl transcript: ENST00000538620
  gene symbol: ATP6V1A
  hgvsc: ENST00000538620.1:c.35T>G
  hgvsp: ENSP00000439874.1:p.Val12Gly
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000417545
  ensembl transcript: ENST00000496747
  gene symbol: ATP6V1A
  hgvsc: ENST00000496747.1:c.35T>G
  hgvsp: ENSP00000417545.1:p.Val12Gly
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000420146
  ensembl transcript: ENST00000470455
  gene symbol: ATP6V1A
  hgvsc: ENST00000470455.1:c.*36T>G
  variant of: http://identifiers.org/hgnc/851
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14909
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7454
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1988
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5139
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3336
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10506
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11303
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16661
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2502
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4374
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3812
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val45Gly
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: Latino
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD

3-113499958-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113499958
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 113499958
    reference: chr 3
allele count: 1
allele frequency: 8.293386853323161e-6
allele num: 120578
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000273398
  ensembl transcript: ENST00000273398
  gene symbol: ATP6V1A
  hgvsc: ENST00000273398.3:c.144C>T
  hgvsp: ENST00000273398.3:c.144C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000419294
  ensembl transcript: ENST00000475322
  gene symbol: ATP6V1A
  hgvsc: ENST00000475322.1:c.144C>T
  hgvsp: ENST00000475322.1:c.144C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000417545
  ensembl transcript: ENST00000496747
  gene symbol: ATP6V1A
  hgvsc: ENST00000496747.1:c.45C>T
  hgvsp: ENST00000496747.1:c.45C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000439874
  ensembl transcript: ENST00000538620
  gene symbol: ATP6V1A
  hgvsc: ENST00000538620.1:c.45C>T
  hgvsp: ENST00000538620.1:c.45C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000420146
  ensembl transcript: ENST00000470455
  gene symbol: ATP6V1A
  hgvsc: ENST00000470455.1:c.*46C>T
  variant of: http://identifiers.org/hgnc/851
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 7452
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15163
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3333
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11467
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5140
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10536
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1981
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4806
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3826
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3305
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2512
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17089
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7371
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser48Ser
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP

3-113499959-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113499959
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 113499959
    reference: chr 3
allele count: 4
allele frequency: 3.315979706204198e-5
allele num: 120628
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000273398
  ensembl transcript: ENST00000273398
  gene symbol: ATP6V1A
  hgvsc: ENST00000273398.3:c.145G>A
  hgvsp: ENSP00000273398.3:p.Glu49Lys
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000439874
  ensembl transcript: ENST00000538620
  gene symbol: ATP6V1A
  hgvsc: ENST00000538620.1:c.46G>A
  hgvsp: ENSP00000439874.1:p.Glu16Lys
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000419294
  ensembl transcript: ENST00000475322
  gene symbol: ATP6V1A
  hgvsc: ENST00000475322.1:c.145G>A
  hgvsp: ENSP00000419294.1:p.Glu49Lys
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000417545
  ensembl transcript: ENST00000496747
  gene symbol: ATP6V1A
  hgvsc: ENST00000496747.1:c.46G>A
  hgvsp: ENSP00000417545.1:p.Glu16Lys
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000420146
  ensembl transcript: ENST00000470455
  gene symbol: ATP6V1A
  hgvsc: ENST00000470455.1:c.*47G>A
  variant of: http://identifiers.org/hgnc/851
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7448
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3332
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1982
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11480
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10533
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15198
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5139
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16666
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3828
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4806
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Glu49Lys
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD

3-113499960-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113499960
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 113499960
    reference: chr 3
allele count: 1
allele frequency: 8.287063893262618e-6
allele num: 120670
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000273398
  ensembl transcript: ENST00000273398
  gene symbol: ATP6V1A
  hgvsc: ENST00000273398.3:c.146A>T
  hgvsp: ENSP00000273398.3:p.Glu49Val
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000417545
  ensembl transcript: ENST00000496747
  gene symbol: ATP6V1A
  hgvsc: ENST00000496747.1:c.47A>T
  hgvsp: ENSP00000417545.1:p.Glu16Val
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000439874
  ensembl transcript: ENST00000538620
  gene symbol: ATP6V1A
  hgvsc: ENST00000538620.1:c.47A>T
  hgvsp: ENSP00000439874.1:p.Glu16Val
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000419294
  ensembl transcript: ENST00000475322
  gene symbol: ATP6V1A
  hgvsc: ENST00000475322.1:c.146A>T
  hgvsp: ENSP00000419294.1:p.Glu49Val
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000420146
  ensembl transcript: ENST00000470455
  gene symbol: ATP6V1A
  hgvsc: ENST00000470455.1:c.*48A>T
  variant of: http://identifiers.org/hgnc/851
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5141
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7446
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15219
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11491
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10525
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3332
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1981
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4808
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16665
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4388
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7391
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Glu49Val
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

3-113499962-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113499962
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 113499962
    reference: chr 3
allele count: 1
allele frequency: 8.284043275842073e-6
allele num: 120714
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000417545
  ensembl transcript: ENST00000496747
  gene symbol: ATP6V1A
  hgvsc: ENST00000496747.1:c.49T>C
  hgvsp: ENST00000496747.1:c.49T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000439874
  ensembl transcript: ENST00000538620
  gene symbol: ATP6V1A
  hgvsc: ENST00000538620.1:c.49T>C
  hgvsp: ENST00000538620.1:c.49T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000419294
  ensembl transcript: ENST00000475322
  gene symbol: ATP6V1A
  hgvsc: ENST00000475322.1:c.148T>C
  hgvsp: ENST00000475322.1:c.148T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000420146
  ensembl transcript: ENST00000470455
  gene symbol: ATP6V1A
  hgvsc: ENST00000470455.1:c.*50T>C
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000273398
  ensembl transcript: ENST00000273398
  gene symbol: ATP6V1A
  hgvsc: ENST00000273398.3:c.148T>C
  hgvsp: ENST00000273398.3:c.148T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/851
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5140
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7444
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11505
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10527
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1981
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15258
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3333
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4387
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4805
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3304
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17254
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16666
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu50Leu
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

3-113499976-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113499976
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 113499976
    reference: chr 3
allele count: 1
allele frequency: 8.273762245168123e-6
allele num: 120864
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000417545
  ensembl transcript: ENST00000496747
  gene symbol: ATP6V1A
  hgvsc: ENST00000496747.1:c.63T>G
  hgvsp: ENSP00000417545.1:p.Ile21Met
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000273398
  ensembl transcript: ENST00000273398
  gene symbol: ATP6V1A
  hgvsc: ENST00000273398.3:c.162T>G
  hgvsp: ENSP00000273398.3:p.Ile54Met
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000419294
  ensembl transcript: ENST00000475322
  gene symbol: ATP6V1A
  hgvsc: ENST00000475322.1:c.162T>G
  hgvsp: ENSP00000419294.1:p.Ile54Met
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000420146
  ensembl transcript: ENST00000470455
  gene symbol: ATP6V1A
  hgvsc: ENST00000470455.1:c.*64T>G
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000439874
  ensembl transcript: ENST00000538620
  gene symbol: ATP6V1A
  hgvsc: ENST00000538620.1:c.63T>G
  hgvsp: ENSP00000439874.1:p.Ile21Met
  variant of: http://identifiers.org/hgnc/851
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5141
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11623
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15257
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10534
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3334
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7442
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1981
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3835
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3305
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4390
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ile54Met
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

3-113499982-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113499982
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 113499982
    reference: chr 3
allele count: 1
allele frequency: 8.274036074797286e-6
allele num: 120860
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000439874
  ensembl transcript: ENST00000538620
  gene symbol: ATP6V1A
  hgvsc: ENST00000538620.1:c.69A>G
  hgvsp: ENST00000538620.1:c.69A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000273398
  ensembl transcript: ENST00000273398
  gene symbol: ATP6V1A
  hgvsc: ENST00000273398.3:c.168A>G
  hgvsp: ENST00000273398.3:c.168A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000417545
  ensembl transcript: ENST00000496747
  gene symbol: ATP6V1A
  hgvsc: ENST00000496747.1:c.69A>G
  hgvsp: ENST00000496747.1:c.69A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000419294
  ensembl transcript: ENST00000475322
  gene symbol: ATP6V1A
  hgvsc: ENST00000475322.1:c.168A>G
  hgvsp: ENST00000475322.1:c.168A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000420146
  ensembl transcript: ENST00000470455
  gene symbol: ATP6V1A
  hgvsc: ENST00000470455.1:c.*70A>G
  variant of: http://identifiers.org/hgnc/851
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15176
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7442
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11668
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5141
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10542
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3334
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1981
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3305
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7404
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17334
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2513
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg56Arg
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum

3-113500000-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113500000
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 113500000
    reference: chr 3
allele count: 1
allele frequency: 8.305509875251242e-6
allele num: 120402
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000417545
  ensembl transcript: ENST00000496747
  gene symbol: ATP6V1A
  hgvsc: ENST00000496747.1:c.87T>G
  hgvsp: ENST00000496747.1:c.87T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000420146
  ensembl transcript: ENST00000470455
  gene symbol: ATP6V1A
  hgvsc: ENST00000470455.1:c.*88T>G
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000419294
  ensembl transcript: ENST00000475322
  gene symbol: ATP6V1A
  hgvsc: ENST00000475322.1:c.186T>G
  hgvsp: ENST00000475322.1:c.186T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000439874
  ensembl transcript: ENST00000538620
  gene symbol: ATP6V1A
  hgvsc: ENST00000538620.1:c.87T>G
  hgvsp: ENST00000538620.1:c.87T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000273398
  ensembl transcript: ENST00000273398
  gene symbol: ATP6V1A
  hgvsc: ENST00000273398.3:c.186T>G
  hgvsp: ENST00000273398.3:c.186T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/851
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1981
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11707
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5142
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14530
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7444
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3334
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10541
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2512
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3304
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4383
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4794
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16738
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16667
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3818
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala62Ala
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum

3-113500012-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113500012
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 113500012
    reference: chr 3
allele count: 1
allele frequency: 8.354079296920687e-6
allele num: 119702
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000419294
  ensembl transcript: ENST00000475322
  gene symbol: ATP6V1A
  hgvsc: ENST00000475322.1:c.198G>A
  hgvsp: ENST00000475322.1:c.198G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000420146
  ensembl transcript: ENST00000470455
  gene symbol: ATP6V1A
  hgvsc: ENST00000470455.1:c.*100G>A
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000417545
  ensembl transcript: ENST00000496747
  gene symbol: ATP6V1A
  hgvsc: ENST00000496747.1:c.99G>A
  hgvsp: ENST00000496747.1:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000439874
  ensembl transcript: ENST00000538620
  gene symbol: ATP6V1A
  hgvsc: ENST00000538620.1:c.99G>A
  hgvsp: ENST00000538620.1:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000273398
  ensembl transcript: ENST00000273398
  gene symbol: ATP6V1A
  hgvsc: ENST00000273398.3:c.198G>A
  hgvsp: ENST00000273398.3:c.198G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/851
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13751
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11483
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10521
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7444
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5141
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1980
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3334
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3304
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15805
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3797
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1450
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val66Val
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

3-113500024-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113500024
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 113500024
    reference: chr 3
allele count: 1
allele frequency: 8.420910805712745e-6
allele num: 118752
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000420146
  ensembl transcript: ENST00000470455
  gene symbol: ATP6V1A
  hgvsc: ENST00000470455.1:c.*112T>G
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000419294
  ensembl transcript: ENST00000475322
  gene symbol: ATP6V1A
  hgvsc: ENST00000475322.1:c.210T>G
  hgvsp: ENST00000475322.1:c.210T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000273398
  ensembl transcript: ENST00000273398
  gene symbol: ATP6V1A
  hgvsc: ENST00000273398.3:c.210T>G
  hgvsp: ENST00000273398.3:c.210T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000439874
  ensembl transcript: ENST00000538620
  gene symbol: ATP6V1A
  hgvsc: ENST00000538620.1:c.111T>G
  hgvsp: ENST00000538620.1:c.111T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000417545
  ensembl transcript: ENST00000496747
  gene symbol: ATP6V1A
  hgvsc: ENST00000496747.1:c.111T>G
  hgvsp: ENST00000496747.1:c.111T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/851
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10490
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12576
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1979
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3333
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1876
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5140
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11065
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7446
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2441
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4779
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3787
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
hgvs: c.210T>G
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

3-113500041-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113500041
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 113500041
    reference: chr 3
allele count: 2
allele frequency: 1.703171304969854e-5
allele num: 117428
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000273398
  ensembl transcript: ENST00000273398
  gene symbol: ATP6V1A
  hgvsc: ENST00000273398.3:c.211+16C>G
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000419294
  ensembl transcript: ENST00000475322
  gene symbol: ATP6V1A
  hgvsc: ENST00000475322.1:c.211+16C>G
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000420146
  ensembl transcript: ENST00000470455
  gene symbol: ATP6V1A
  hgvsc: ENST00000470455.1:c.*113+16C>G
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000439874
  ensembl transcript: ENST00000538620
  gene symbol: ATP6V1A
  hgvsc: ENST00000538620.1:c.112+16C>G
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000417545
  ensembl transcript: ENST00000496747
  gene symbol: ATP6V1A
  hgvsc: ENST00000496747.1:c.112+16C>G
  variant of: http://identifiers.org/hgnc/851
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2595
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5142
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11709
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10705
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3330
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10454
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1979
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7439
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4777
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16672
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13146
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4376
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3779
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7113
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2509
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

3-113500046-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113500046
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 113500046
    reference: chr 3
allele count: 20
allele frequency: 1.708408788054806e-4
allele num: 117068
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000420146
  ensembl transcript: ENST00000470455
  gene symbol: ATP6V1A
  hgvsc: ENST00000470455.1:c.*113+21T>C
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000273398
  ensembl transcript: ENST00000273398
  gene symbol: ATP6V1A
  hgvsc: ENST00000273398.3:c.211+21T>C
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000439874
  ensembl transcript: ENST00000538620
  gene symbol: ATP6V1A
  hgvsc: ENST00000538620.1:c.112+21T>C
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000417545
  ensembl transcript: ENST00000496747
  gene symbol: ATP6V1A
  hgvsc: ENST00000496747.1:c.112+21T>C
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000419294
  ensembl transcript: ENST00000475322
  gene symbol: ATP6V1A
  hgvsc: ENST00000475322.1:c.211+21T>C
  variant of: http://identifiers.org/hgnc/851
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 9.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 3336
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2625
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1723
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5140
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7442
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11542
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10633
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10441
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1984
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4763
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3239
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7090
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 12968
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4365
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2505
  bin: 8.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: East Asian
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum

3-113500047-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113500047
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 113500047
    reference: chr 3
allele count: 1
allele frequency: 8.536064874093044e-6
allele num: 117150
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000420146
  ensembl transcript: ENST00000470455
  gene symbol: ATP6V1A
  hgvsc: ENST00000470455.1:c.*113+22C>T
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000273398
  ensembl transcript: ENST00000273398
  gene symbol: ATP6V1A
  hgvsc: ENST00000273398.3:c.211+22C>T
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000419294
  ensembl transcript: ENST00000475322
  gene symbol: ATP6V1A
  hgvsc: ENST00000475322.1:c.211+22C>T
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000439874
  ensembl transcript: ENST00000538620
  gene symbol: ATP6V1A
  hgvsc: ENST00000538620.1:c.112+22C>T
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000417545
  ensembl transcript: ENST00000496747
  gene symbol: ATP6V1A
  hgvsc: ENST00000496747.1:c.112+22C>T
  variant of: http://identifiers.org/hgnc/851
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10628
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7434
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3340
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1726
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5151
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2639
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1997
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10441
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11537
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16762
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4765
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4371
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3258
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3299
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD

3-113500055-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113500055
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 113500055
    reference: chr 3
allele count: 1
allele frequency: 8.592394012819852e-6
allele num: 116382
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000419294
  ensembl transcript: ENST00000475322
  gene symbol: ATP6V1A
  hgvsc: ENST00000475322.1:c.211+30T>G
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000273398
  ensembl transcript: ENST00000273398
  gene symbol: ATP6V1A
  hgvsc: ENST00000273398.3:c.211+30T>G
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000439874
  ensembl transcript: ENST00000538620
  gene symbol: ATP6V1A
  hgvsc: ENST00000538620.1:c.112+30T>G
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000420146
  ensembl transcript: ENST00000470455
  gene symbol: ATP6V1A
  hgvsc: ENST00000470455.1:c.*113+30T>G
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000417545
  ensembl transcript: ENST00000496747
  gene symbol: ATP6V1A
  hgvsc: ENST00000496747.1:c.112+30T>G
  variant of: http://identifiers.org/hgnc/851
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2531
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3340
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11357
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7426
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1997
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10553
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10408
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5149
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7059
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12725
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4762
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2506
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4370
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3063
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff

3-113500057-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113500057
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 113500057
    reference: chr 3
allele count: 9
allele frequency: 7.736478355052781e-5
allele num: 116332
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000420146
  ensembl transcript: ENST00000470455
  gene symbol: ATP6V1A
  hgvsc: ENST00000470455.1:c.*113+32T>C
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000417545
  ensembl transcript: ENST00000496747
  gene symbol: ATP6V1A
  hgvsc: ENST00000496747.1:c.112+32T>C
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000439874
  ensembl transcript: ENST00000538620
  gene symbol: ATP6V1A
  hgvsc: ENST00000538620.1:c.112+32T>C
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000419294
  ensembl transcript: ENST00000475322
  gene symbol: ATP6V1A
  hgvsc: ENST00000475322.1:c.211+32T>C
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000273398
  ensembl transcript: ENST00000273398
  gene symbol: ATP6V1A
  hgvsc: ENST00000273398.3:c.211+32T>C
  variant of: http://identifiers.org/hgnc/851
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2517
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11356
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7422
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10559
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5148
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10400
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3339
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1997
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16768
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2506
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3125
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4761
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3298
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4369
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

3-113500060-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113500060
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 113500060
    reference: chr 3
allele count: 1
allele frequency: 8.623365872167224e-6
allele num: 115964
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000439874
  ensembl transcript: ENST00000538620
  gene symbol: ATP6V1A
  hgvsc: ENST00000538620.1:c.112+35A>G
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000417545
  ensembl transcript: ENST00000496747
  gene symbol: ATP6V1A
  hgvsc: ENST00000496747.1:c.112+35A>G
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000420146
  ensembl transcript: ENST00000470455
  gene symbol: ATP6V1A
  hgvsc: ENST00000470455.1:c.*113+35A>G
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000273398
  ensembl transcript: ENST00000273398
  gene symbol: ATP6V1A
  hgvsc: ENST00000273398.3:c.211+35A>G
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000419294
  ensembl transcript: ENST00000475322
  gene symbol: ATP6V1A
  hgvsc: ENST00000475322.1:c.211+35A>G
  variant of: http://identifiers.org/hgnc/851
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11325
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10372
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7415
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10514
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1999
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2365
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5147
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3340
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 706
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3298
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4759
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16768
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7035
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3770
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

3-113500068-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113500068
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 113500068
    reference: chr 3
allele count: 1
allele frequency: 8.677241331435909e-6
allele num: 115244
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000420146
  ensembl transcript: ENST00000470455
  gene symbol: ATP6V1A
  hgvsc: ENST00000470455.1:c.*113+43A>G
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000439874
  ensembl transcript: ENST00000538620
  gene symbol: ATP6V1A
  hgvsc: ENST00000538620.1:c.112+43A>G
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000419294
  ensembl transcript: ENST00000475322
  gene symbol: ATP6V1A
  hgvsc: ENST00000475322.1:c.211+43A>G
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000273398
  ensembl transcript: ENST00000273398
  gene symbol: ATP6V1A
  hgvsc: ENST00000273398.3:c.211+43A>G
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000417545
  ensembl transcript: ENST00000496747
  gene symbol: ATP6V1A
  hgvsc: ENST00000496747.1:c.112+43A>G
  variant of: http://identifiers.org/hgnc/851
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2026
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3339
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5145
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1997
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2448
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10397
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7413
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10332
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11395
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7004
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3762
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16766
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 847
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3297
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4755
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12464
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2332
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4365
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: African
reference allele: A
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

3-113500071-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113500071
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 113500071
    reference: chr 3
allele count: 1
allele frequency: 8.724328662909389e-6
allele num: 114622
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000417545
  ensembl transcript: ENST00000496747
  gene symbol: ATP6V1A
  hgvsc: ENST00000496747.1:c.112+46T>G
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000420146
  ensembl transcript: ENST00000470455
  gene symbol: ATP6V1A
  hgvsc: ENST00000470455.1:c.*113+46T>G
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000419294
  ensembl transcript: ENST00000475322
  gene symbol: ATP6V1A
  hgvsc: ENST00000475322.1:c.211+46T>G
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000273398
  ensembl transcript: ENST00000273398
  gene symbol: ATP6V1A
  hgvsc: ENST00000273398.3:c.211+46T>G
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000439874
  ensembl transcript: ENST00000538620
  gene symbol: ATP6V1A
  hgvsc: ENST00000538620.1:c.112+46T>G
  variant of: http://identifiers.org/hgnc/851
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10280
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3339
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10363
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2638
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11485
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7404
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1834
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5144
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 919
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3747
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6932
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2506
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 866
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3297
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1835
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: FS

3-113500072-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113500072
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 113500072
    reference: chr 3
allele count: 3
allele frequency: 2.616294280780702e-5
allele num: 114666
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000419294
  ensembl transcript: ENST00000475322
  gene symbol: ATP6V1A
  hgvsc: ENST00000475322.1:c.211+47T>C
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000273398
  ensembl transcript: ENST00000273398
  gene symbol: ATP6V1A
  hgvsc: ENST00000273398.3:c.211+47T>C
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000439874
  ensembl transcript: ENST00000538620
  gene symbol: ATP6V1A
  hgvsc: ENST00000538620.1:c.112+47T>C
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000417545
  ensembl transcript: ENST00000496747
  gene symbol: ATP6V1A
  hgvsc: ENST00000496747.1:c.112+47T>C
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000420146
  ensembl transcript: ENST00000470455
  gene symbol: ATP6V1A
  hgvsc: ENST00000470455.1:c.*113+47T>C
  variant of: http://identifiers.org/hgnc/851
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7402
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10363
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3338
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11486
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5145
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10277
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2644
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 869
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4365
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2506
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 870
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1894
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12309
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3748
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

3-113503021-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113503021
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 113503021
    reference: chr 3
allele count: 1
allele frequency: 8.309512730173502e-6
allele num: 120344
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000417545
  ensembl transcript: ENST00000496747
  gene symbol: ATP6V1A
  hgvsc: ENST00000496747.1:c.113-50A>T
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000420146
  ensembl transcript: ENST00000470455
  gene symbol: ATP6V1A
  hgvsc: ENST00000470455.1:c.*114-50A>T
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000419294
  ensembl transcript: ENST00000475322
  gene symbol: ATP6V1A
  hgvsc: ENST00000475322.1:c.212-50A>T
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000273398
  ensembl transcript: ENST00000273398
  gene symbol: ATP6V1A
  hgvsc: ENST00000273398.3:c.212-50A>T
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000439874
  ensembl transcript: ENST00000538620
  gene symbol: ATP6V1A
  hgvsc: ENST00000538620.1:c.113-50A>T
  variant of: http://identifiers.org/hgnc/851
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10557
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12794
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1820
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 489
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1537
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3773
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4294
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1134
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 926
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genotype quality: GenotypeQuality
  all individuals: 1511
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genotype quality: GenotypeQuality
  all individuals: 90
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2683
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum

3-113503028-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113503028
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 113503028
    reference: chr 3
allele count: 1
allele frequency: 8.300683976359652e-6
allele num: 120472
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000420146
  ensembl transcript: ENST00000470455
  gene symbol: ATP6V1A
  hgvsc: ENST00000470455.1:c.*114-43C>T
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000273398
  ensembl transcript: ENST00000273398
  gene symbol: ATP6V1A
  hgvsc: ENST00000273398.3:c.212-43C>T
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000419294
  ensembl transcript: ENST00000475322
  gene symbol: ATP6V1A
  hgvsc: ENST00000475322.1:c.212-43C>T
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000417545
  ensembl transcript: ENST00000496747
  gene symbol: ATP6V1A
  hgvsc: ENST00000496747.1:c.113-43C>T
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000439874
  ensembl transcript: ENST00000538620
  gene symbol: ATP6V1A
  hgvsc: ENST00000538620.1:c.113-43C>T
  variant of: http://identifiers.org/hgnc/851
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12918
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22400
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4281
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1813
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2610
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 611
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genotype quality: GenotypeQuality
  all individuals: 32844
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 1998
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9224
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genotype quality: GenotypeQuality
  all individuals: 495
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 273
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 762
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 823
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum

3-113503044-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113503044
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 113503044
    reference: chr 3
allele count: 1
allele frequency: 8.273077750384698e-6
allele num: 120874
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000439874
  ensembl transcript: ENST00000538620
  gene symbol: ATP6V1A
  hgvsc: ENST00000538620.1:c.113-27T>A
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000273398
  ensembl transcript: ENST00000273398
  gene symbol: ATP6V1A
  hgvsc: ENST00000273398.3:c.212-27T>A
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000417545
  ensembl transcript: ENST00000496747
  gene symbol: ATP6V1A
  hgvsc: ENST00000496747.1:c.113-27T>A
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000419294
  ensembl transcript: ENST00000475322
  gene symbol: ATP6V1A
  hgvsc: ENST00000475322.1:c.212-27T>A
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000420146
  ensembl transcript: ENST00000470455
  gene symbol: ATP6V1A
  hgvsc: ENST00000470455.1:c.*114-27T>A
  variant of: http://identifiers.org/hgnc/851
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1815
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23203
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4299
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13961
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13131
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36269
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 750
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2584
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3158
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff

3-113503045-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113503045
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 113503045
    reference: chr 3
allele count: 1
allele frequency: 8.271572260455268e-6
allele num: 120896
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000417545
  ensembl transcript: ENST00000496747
  gene symbol: ATP6V1A
  hgvsc: ENST00000496747.1:c.113-26A>G
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000420146
  ensembl transcript: ENST00000470455
  gene symbol: ATP6V1A
  hgvsc: ENST00000470455.1:c.*114-26A>G
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000439874
  ensembl transcript: ENST00000538620
  gene symbol: ATP6V1A
  hgvsc: ENST00000538620.1:c.113-26A>G
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000419294
  ensembl transcript: ENST00000475322
  gene symbol: ATP6V1A
  hgvsc: ENST00000475322.1:c.212-26A>G
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000273398
  ensembl transcript: ENST00000273398
  gene symbol: ATP6V1A
  hgvsc: ENST00000273398.3:c.212-26A>G
  variant of: http://identifiers.org/hgnc/851
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4295
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13133
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23234
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14005
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9383
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3159
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2586
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36424
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
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genotype quality: GenotypeQuality
  all individuals: 4
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4443
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

3-113503053-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113503053
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 113503053
    reference: chr 3
allele count: 2
allele frequency: 1.65128222064433e-5
allele num: 121118
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000439874
  ensembl transcript: ENST00000538620
  gene symbol: ATP6V1A
  hgvsc: ENST00000538620.1:c.113-18C>T
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000420146
  ensembl transcript: ENST00000470455
  gene symbol: ATP6V1A
  hgvsc: ENST00000470455.1:c.*114-18C>T
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000419294
  ensembl transcript: ENST00000475322
  gene symbol: ATP6V1A
  hgvsc: ENST00000475322.1:c.212-18C>T
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000417545
  ensembl transcript: ENST00000496747
  gene symbol: ATP6V1A
  hgvsc: ENST00000496747.1:c.113-18C>T
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000273398
  ensembl transcript: ENST00000273398
  gene symbol: ATP6V1A
  hgvsc: ENST00000273398.3:c.212-18C>T
  variant of: http://identifiers.org/hgnc/851
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4290
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23440
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13174
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14133
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9413
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 1096
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 745
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36784
  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 156
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 43
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genotype quality: GenotypeQuality
  all individuals: 1966
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
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genotype quality: GenotypeQuality
  all individuals: 62
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genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2598
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: QD

3-113503056-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113503056
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 113503056
    reference: chr 3
allele count: 1
allele frequency: 8.25300409349003e-6
allele num: 121168
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000417545
  ensembl transcript: ENST00000496747
  gene symbol: ATP6V1A
  hgvsc: ENST00000496747.1:c.113-15A>G
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000273398
  ensembl transcript: ENST00000273398
  gene symbol: ATP6V1A
  hgvsc: ENST00000273398.3:c.212-15A>G
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000419294
  ensembl transcript: ENST00000475322
  gene symbol: ATP6V1A
  hgvsc: ENST00000475322.1:c.212-15A>G
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000420146
  ensembl transcript: ENST00000470455
  gene symbol: ATP6V1A
  hgvsc: ENST00000470455.1:c.*114-15A>G
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000439874
  ensembl transcript: ENST00000538620
  gene symbol: ATP6V1A
  hgvsc: ENST00000538620.1:c.113-15A>G
  variant of: http://identifiers.org/hgnc/851
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14178
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4294
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13172
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23468
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
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genotype depth: GenotypeDepth
  all individuals: 339
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 24
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1965
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4436
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 9428
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 745
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 133
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2599
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP

3-113503058-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113503058
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 113503058
    reference: chr 3
allele count: 156
allele frequency: 1.287128712871287e-3
allele num: 121200
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000273398
  ensembl transcript: ENST00000273398
  gene symbol: ATP6V1A
  hgvsc: ENST00000273398.3:c.212-13C>T
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000419294
  ensembl transcript: ENST00000475322
  gene symbol: ATP6V1A
  hgvsc: ENST00000475322.1:c.212-13C>T
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000417545
  ensembl transcript: ENST00000496747
  gene symbol: ATP6V1A
  hgvsc: ENST00000496747.1:c.113-13C>T
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000420146
  ensembl transcript: ENST00000470455
  gene symbol: ATP6V1A
  hgvsc: ENST00000470455.1:c.*114-13C>T
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000439874
  ensembl transcript: ENST00000538620
  gene symbol: ATP6V1A
  hgvsc: ENST00000538620.1:c.113-13C>T
  variant of: http://identifiers.org/hgnc/851
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 6.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 23455
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14133
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 5.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 13176
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 4289
  bin: 3.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 5.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 4.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9403
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1957
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1087
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3148
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36917
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 2
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

3-113503066-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113503066
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 113503066
    reference: chr 3
allele count: 1
allele frequency: 8.245790523937529e-6
allele num: 121274
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000420146
  ensembl transcript: ENST00000470455
  gene symbol: ATP6V1A
  hgvsc: ENST00000470455.1:c.*114-5T>C
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000273398
  ensembl transcript: ENST00000273398
  gene symbol: ATP6V1A
  hgvsc: ENST00000273398.3:c.212-5T>C
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000419294
  ensembl transcript: ENST00000475322
  gene symbol: ATP6V1A
  hgvsc: ENST00000475322.1:c.212-5T>C
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000417545
  ensembl transcript: ENST00000496747
  gene symbol: ATP6V1A
  hgvsc: ENST00000496747.1:c.113-5T>C
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000439874
  ensembl transcript: ENST00000538620
  gene symbol: ATP6V1A
  hgvsc: ENST00000538620.1:c.113-5T>C
  variant of: http://identifiers.org/hgnc/851
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23602
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13219
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1804
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4268
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14173
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2600
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 744
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37132
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9452
  bin: 6.75e1
  variant carriers: 0
hgvs: c.212-5T>C
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

3-113503075-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113503075
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 113503075
    reference: chr 3
allele count: 1
allele frequency: 8.240762105679534e-6
allele num: 121348
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000419294
  ensembl transcript: ENST00000475322
  gene symbol: ATP6V1A
  hgvsc: ENST00000475322.1:c.216T>C
  hgvsp: ENST00000475322.1:c.216T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000439874
  ensembl transcript: ENST00000538620
  gene symbol: ATP6V1A
  hgvsc: ENST00000538620.1:c.117T>C
  hgvsp: ENST00000538620.1:c.117T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000420146
  ensembl transcript: ENST00000470455
  gene symbol: ATP6V1A
  hgvsc: ENST00000470455.1:c.*118T>C
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000273398
  ensembl transcript: ENST00000273398
  gene symbol: ATP6V1A
  hgvsc: ENST00000273398.3:c.216T>C
  hgvsp: ENST00000273398.3:c.216T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000417545
  ensembl transcript: ENST00000496747
  gene symbol: ATP6V1A
  hgvsc: ENST00000496747.1:c.117T>C
  hgvsp: ENST00000496747.1:c.117T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/851
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4269
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14187
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1805
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23647
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13227
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37207
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3148
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1961
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9465
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2595
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly72Gly
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP

3-113503082-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113503082
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 113503082
    reference: chr 3
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000417545
  ensembl transcript: ENST00000496747
  gene symbol: ATP6V1A
  hgvsc: ENST00000496747.1:c.124G>T
  hgvsp: ENSP00000417545.1:p.Val42Phe
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000419294
  ensembl transcript: ENST00000475322
  gene symbol: ATP6V1A
  hgvsc: ENST00000475322.1:c.223G>T
  hgvsp: ENSP00000419294.1:p.Val75Phe
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000273398
  ensembl transcript: ENST00000273398
  gene symbol: ATP6V1A
  hgvsc: ENST00000273398.3:c.223G>T
  hgvsp: ENSP00000273398.3:p.Val75Phe
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000439874
  ensembl transcript: ENST00000538620
  gene symbol: ATP6V1A
  hgvsc: ENST00000538620.1:c.124G>T
  hgvsp: ENSP00000439874.1:p.Val42Phe
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000420146
  ensembl transcript: ENST00000470455
  gene symbol: ATP6V1A
  hgvsc: ENST00000470455.1:c.*125G>T
  variant of: http://identifiers.org/hgnc/851
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4269
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14198
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13228
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1803
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23661
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1086
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3149
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 744
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2597
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37247
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1962
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Val75Phe
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum

3-113503104-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113503104
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 113503104
    reference: chr 3
allele count: 6
allele frequency: 4.942257952916756e-5
allele num: 121402
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000420146
  ensembl transcript: ENST00000470455
  gene symbol: ATP6V1A
  hgvsc: ENST00000470455.1:c.*147C>G
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000273398
  ensembl transcript: ENST00000273398
  gene symbol: ATP6V1A
  hgvsc: ENST00000273398.3:c.245C>G
  hgvsp: ENSP00000273398.3:p.Thr82Ser
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000439874
  ensembl transcript: ENST00000538620
  gene symbol: ATP6V1A
  hgvsc: ENST00000538620.1:c.146C>G
  hgvsp: ENSP00000439874.1:p.Thr49Ser
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000417545
  ensembl transcript: ENST00000496747
  gene symbol: ATP6V1A
  hgvsc: ENST00000496747.1:c.146C>G
  hgvsp: ENSP00000417545.1:p.Thr49Ser
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000419294
  ensembl transcript: ENST00000475322
  gene symbol: ATP6V1A
  hgvsc: ENST00000475322.1:c.245C>G
  hgvsp: ENSP00000419294.1:p.Thr82Ser
  variant of: http://identifiers.org/hgnc/851
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23688
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4273
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13233
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1803
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14194
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4398
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1960
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 745
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3148
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9468
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Thr82Ser
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

3-113503106-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113503106
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 113503106
    reference: chr 3
allele count: 3
allele frequency: 2.471128976458378e-5
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000420146
  ensembl transcript: ENST00000470455
  gene symbol: ATP6V1A
  hgvsc: ENST00000470455.1:c.*149G>A
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000417545
  ensembl transcript: ENST00000496747
  gene symbol: ATP6V1A
  hgvsc: ENST00000496747.1:c.148G>A
  hgvsp: ENSP00000417545.1:p.Gly50Ser
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000273398
  ensembl transcript: ENST00000273398
  gene symbol: ATP6V1A
  hgvsc: ENST00000273398.3:c.247G>A
  hgvsp: ENSP00000273398.3:p.Gly83Ser
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000419294
  ensembl transcript: ENST00000475322
  gene symbol: ATP6V1A
  hgvsc: ENST00000475322.1:c.247G>A
  hgvsp: ENSP00000419294.1:p.Gly83Ser
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000439874
  ensembl transcript: ENST00000538620
  gene symbol: ATP6V1A
  hgvsc: ENST00000538620.1:c.148G>A
  hgvsp: ENSP00000439874.1:p.Gly50Ser
  variant of: http://identifiers.org/hgnc/851
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4271
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23691
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14193
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13234
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1803
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2598
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37293
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1959
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9470
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4397
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1086
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly83Ser
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum

3-113503119-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113503119
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 113503119
    reference: chr 3
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000439874
  ensembl transcript: ENST00000538620
  gene symbol: ATP6V1A
  hgvsc: ENST00000538620.1:c.161C>G
  hgvsp: ENSP00000439874.1:p.Ser54Cys
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000420146
  ensembl transcript: ENST00000470455
  gene symbol: ATP6V1A
  hgvsc: ENST00000470455.1:c.*162C>G
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000273398
  ensembl transcript: ENST00000273398
  gene symbol: ATP6V1A
  hgvsc: ENST00000273398.3:c.260C>G
  hgvsp: ENSP00000273398.3:p.Ser87Cys
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000419294
  ensembl transcript: ENST00000475322
  gene symbol: ATP6V1A
  hgvsc: ENST00000475322.1:c.260C>G
  hgvsp: ENSP00000419294.1:p.Ser87Cys
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000417545
  ensembl transcript: ENST00000496747
  gene symbol: ATP6V1A
  hgvsc: ENST00000496747.1:c.161C>G
  hgvsp: ENSP00000417545.1:p.Ser54Cys
  variant of: http://identifiers.org/hgnc/851
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13234
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1802
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14189
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23699
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4272
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1959
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2599
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 746
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9470
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3148
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser87Cys
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

3-113503122-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113503122
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 113503122
    reference: chr 3
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000417545
  ensembl transcript: ENST00000496747
  gene symbol: ATP6V1A
  hgvsc: ENST00000496747.1:c.164T>C
  hgvsp: ENSP00000417545.1:p.Val55Ala
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000439874
  ensembl transcript: ENST00000538620
  gene symbol: ATP6V1A
  hgvsc: ENST00000538620.1:c.164T>C
  hgvsp: ENSP00000439874.1:p.Val55Ala
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000420146
  ensembl transcript: ENST00000470455
  gene symbol: ATP6V1A
  hgvsc: ENST00000470455.1:c.*165T>C
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000419294
  ensembl transcript: ENST00000475322
  gene symbol: ATP6V1A
  hgvsc: ENST00000475322.1:c.263T>C
  hgvsp: ENSP00000419294.1:p.Val88Ala
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000273398
  ensembl transcript: ENST00000273398
  gene symbol: ATP6V1A
  hgvsc: ENST00000273398.3:c.263T>C
  hgvsp: ENSP00000273398.3:p.Val88Ala
  variant of: http://identifiers.org/hgnc/851
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4273
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13234
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23697
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1802
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14190
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4394
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1959
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9471
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Val88Ala
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

3-113503139-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113503139
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 113503139
    reference: chr 3
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000417545
  ensembl transcript: ENST00000496747
  gene symbol: ATP6V1A
  hgvsc: ENST00000496747.1:c.181A>G
  hgvsp: ENSP00000417545.1:p.Ile61Val
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000419294
  ensembl transcript: ENST00000475322
  gene symbol: ATP6V1A
  hgvsc: ENST00000475322.1:c.280A>G
  hgvsp: ENSP00000419294.1:p.Ile94Val
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000420146
  ensembl transcript: ENST00000470455
  gene symbol: ATP6V1A
  hgvsc: ENST00000470455.1:c.*182A>G
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000439874
  ensembl transcript: ENST00000538620
  gene symbol: ATP6V1A
  hgvsc: ENST00000538620.1:c.181A>G
  hgvsp: ENSP00000439874.1:p.Ile61Val
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000273398
  ensembl transcript: ENST00000273398
  gene symbol: ATP6V1A
  hgvsc: ENST00000273398.3:c.280A>G
  hgvsp: ENSP00000273398.3:p.Ile94Val
  variant of: http://identifiers.org/hgnc/851
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1802
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13234
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23703
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4275
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14186
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37294
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1962
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9472
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4394
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3146
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1086
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ile94Val
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD

3-113503143-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113503143
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 113503143
    reference: chr 3
allele count: 2
allele frequency: 1.647392178181938e-5
allele num: 121404
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000417545
  ensembl transcript: ENST00000496747
  gene symbol: ATP6V1A
  hgvsc: ENST00000496747.1:c.185T>C
  hgvsp: ENSP00000417545.1:p.Met62Thr
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000420146
  ensembl transcript: ENST00000470455
  gene symbol: ATP6V1A
  hgvsc: ENST00000470455.1:c.*186T>C
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000439874
  ensembl transcript: ENST00000538620
  gene symbol: ATP6V1A
  hgvsc: ENST00000538620.1:c.185T>C
  hgvsp: ENSP00000439874.1:p.Met62Thr
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000419294
  ensembl transcript: ENST00000475322
  gene symbol: ATP6V1A
  hgvsc: ENST00000475322.1:c.284T>C
  hgvsp: ENSP00000419294.1:p.Met95Thr
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000273398
  ensembl transcript: ENST00000273398
  gene symbol: ATP6V1A
  hgvsc: ENST00000273398.3:c.284T>C
  hgvsp: ENSP00000273398.3:p.Met95Thr
  variant of: http://identifiers.org/hgnc/851
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14185
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13233
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4274
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23704
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1802
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4394
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1961
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9471
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 0
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Met95Thr
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

3-113503155-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113503155
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 113503155
    reference: chr 3
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000439874
  ensembl transcript: ENST00000538620
  gene symbol: ATP6V1A
  hgvsc: ENST00000538620.1:c.197T>C
  hgvsp: ENSP00000439874.1:p.Phe66Ser
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000417545
  ensembl transcript: ENST00000496747
  gene symbol: ATP6V1A
  hgvsc: ENST00000496747.1:c.197T>C
  hgvsp: ENSP00000417545.1:p.Phe66Ser
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000419294
  ensembl transcript: ENST00000475322
  gene symbol: ATP6V1A
  hgvsc: ENST00000475322.1:c.296T>C
  hgvsp: ENSP00000419294.1:p.Phe99Ser
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000420146
  ensembl transcript: ENST00000470455
  gene symbol: ATP6V1A
  hgvsc: ENST00000470455.1:c.*198T>C
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000273398
  ensembl transcript: ENST00000273398
  gene symbol: ATP6V1A
  hgvsc: ENST00000273398.3:c.296T>C
  hgvsp: ENSP00000273398.3:p.Phe99Ser
  variant of: http://identifiers.org/hgnc/851
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13231
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4273
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23710
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14181
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1803
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1960
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genotype quality: GenotypeQuality
  all individuals: 2
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37296
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
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genotype quality: GenotypeQuality
  all individuals: 2
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9471
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genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Phe99Ser
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD

3-113503166-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113503166
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 113503166
    reference: chr 3
allele count: 2
allele frequency: 1.647310765175851e-5
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000420146
  ensembl transcript: ENST00000470455
  gene symbol: ATP6V1A
  hgvsc: ENST00000470455.1:c.*209C>G
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000417545
  ensembl transcript: ENST00000496747
  gene symbol: ATP6V1A
  hgvsc: ENST00000496747.1:c.208C>G
  hgvsp: ENSP00000417545.1:p.Gln70Glu
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000273398
  ensembl transcript: ENST00000273398
  gene symbol: ATP6V1A
  hgvsc: ENST00000273398.3:c.307C>G
  hgvsp: ENSP00000273398.3:p.Gln103Glu
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000419294
  ensembl transcript: ENST00000475322
  gene symbol: ATP6V1A
  hgvsc: ENST00000475322.1:c.307C>G
  hgvsp: ENSP00000419294.1:p.Gln103Glu
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000439874
  ensembl transcript: ENST00000538620
  gene symbol: ATP6V1A
  hgvsc: ENST00000538620.1:c.208C>G
  hgvsp: ENSP00000439874.1:p.Gln70Glu
  variant of: http://identifiers.org/hgnc/851
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13228
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14183
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23708
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1803
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4274
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4393
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  variant carriers: 2
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37299
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gln103Glu
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

3-113503177-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113503177
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 113503177
    reference: chr 3
allele count: 25
allele frequency: 2.059138456469813e-4
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000420146
  ensembl transcript: ENST00000470455
  gene symbol: ATP6V1A
  hgvsc: ENST00000470455.1:c.*220G>A
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000273398
  ensembl transcript: ENST00000273398
  gene symbol: ATP6V1A
  hgvsc: ENST00000273398.3:c.318G>A
  hgvsp: ENST00000273398.3:c.318G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000417545
  ensembl transcript: ENST00000496747
  gene symbol: ATP6V1A
  hgvsc: ENST00000496747.1:c.219G>A
  hgvsp: ENST00000496747.1:c.219G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000419294
  ensembl transcript: ENST00000475322
  gene symbol: ATP6V1A
  hgvsc: ENST00000475322.1:c.318G>A
  hgvsp: ENST00000475322.1:c.318G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000439874
  ensembl transcript: ENST00000538620
  gene symbol: ATP6V1A
  hgvsc: ENST00000538620.1:c.219G>A
  hgvsp: ENST00000538620.1:c.219G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/851
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 9.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1800
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14175
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23710
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13223
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4269
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1955
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4409
  bin: 9.75e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2596
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9468
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu106Leu
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

3-113503179-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113503179
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 113503179
    reference: chr 3
allele count: 3
allele frequency: 2.471006852925672e-5
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000417545
  ensembl transcript: ENST00000496747
  gene symbol: ATP6V1A
  hgvsc: ENST00000496747.1:c.221C>T
  hgvsp: ENSP00000417545.1:p.Ser74Leu
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000419294
  ensembl transcript: ENST00000475322
  gene symbol: ATP6V1A
  hgvsc: ENST00000475322.1:c.320C>T
  hgvsp: ENSP00000419294.1:p.Ser107Leu
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000420146
  ensembl transcript: ENST00000470455
  gene symbol: ATP6V1A
  hgvsc: ENST00000470455.1:c.*222C>T
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000273398
  ensembl transcript: ENST00000273398
  gene symbol: ATP6V1A
  hgvsc: ENST00000273398.3:c.320C>T
  hgvsp: ENSP00000273398.3:p.Ser107Leu
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000439874
  ensembl transcript: ENST00000538620
  gene symbol: ATP6V1A
  hgvsc: ENST00000538620.1:c.221C>T
  hgvsp: ENSP00000439874.1:p.Ser74Leu
  variant of: http://identifiers.org/hgnc/851
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1799
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13232
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23720
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14175
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4271
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37312
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1083
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4387
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 743
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9467
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1955
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser107Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum

3-113503180-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113503180
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 113503180
    reference: chr 3
allele count: 18
allele frequency: 1.482604111755403e-4
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000420146
  ensembl transcript: ENST00000470455
  gene symbol: ATP6V1A
  hgvsc: ENST00000470455.1:c.*223G>A
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000439874
  ensembl transcript: ENST00000538620
  gene symbol: ATP6V1A
  hgvsc: ENST00000538620.1:c.222G>A
  hgvsp: ENST00000538620.1:c.222G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000417545
  ensembl transcript: ENST00000496747
  gene symbol: ATP6V1A
  hgvsc: ENST00000496747.1:c.222G>A
  hgvsp: ENST00000496747.1:c.222G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000273398
  ensembl transcript: ENST00000273398
  gene symbol: ATP6V1A
  hgvsc: ENST00000273398.3:c.321G>A
  hgvsp: ENST00000273398.3:c.321G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000419294
  ensembl transcript: ENST00000475322
  gene symbol: ATP6V1A
  hgvsc: ENST00000475322.1:c.321G>A
  hgvsp: ENST00000475322.1:c.321G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/851
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23714
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4269
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14176
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13227
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1798
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1081
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2597
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9466
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 743
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser107Ser
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: South Asian
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum

3-113503182-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113503182
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 113503182
    reference: chr 3
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000419294
  ensembl transcript: ENST00000475322
  gene symbol: ATP6V1A
  hgvsc: ENST00000475322.1:c.323A>T
  hgvsp: ENSP00000419294.1:p.Asp108Val
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000420146
  ensembl transcript: ENST00000470455
  gene symbol: ATP6V1A
  hgvsc: ENST00000470455.1:c.*225A>T
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000417545
  ensembl transcript: ENST00000496747
  gene symbol: ATP6V1A
  hgvsc: ENST00000496747.1:c.224A>T
  hgvsp: ENSP00000417545.1:p.Asp75Val
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000273398
  ensembl transcript: ENST00000273398
  gene symbol: ATP6V1A
  hgvsc: ENST00000273398.3:c.323A>T
  hgvsp: ENSP00000273398.3:p.Asp108Val
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000439874
  ensembl transcript: ENST00000538620
  gene symbol: ATP6V1A
  hgvsc: ENST00000538620.1:c.224A>T
  hgvsp: ENSP00000439874.1:p.Asp75Val
  variant of: http://identifiers.org/hgnc/851
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14178
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1799
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23722
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13231
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4271
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3147
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1081
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37328
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asp108Val
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
population: Latino
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

3-113503186-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113503186
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 113503186
    reference: chr 3
allele count: 2
allele frequency: 1.647310765175851e-5
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000273398
  ensembl transcript: ENST00000273398
  gene symbol: ATP6V1A
  hgvsc: ENST00000273398.3:c.327C>T
  hgvsp: ENST00000273398.3:c.327C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000420146
  ensembl transcript: ENST00000470455
  gene symbol: ATP6V1A
  hgvsc: ENST00000470455.1:c.*229C>T
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000417545
  ensembl transcript: ENST00000496747
  gene symbol: ATP6V1A
  hgvsc: ENST00000496747.1:c.228C>T
  hgvsp: ENST00000496747.1:c.228C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000439874
  ensembl transcript: ENST00000538620
  gene symbol: ATP6V1A
  hgvsc: ENST00000538620.1:c.228C>T
  hgvsp: ENST00000538620.1:c.228C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000419294
  ensembl transcript: ENST00000475322
  gene symbol: ATP6V1A
  hgvsc: ENST00000475322.1:c.327C>T
  hgvsp: ENST00000475322.1:c.327C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/851
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1798
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14179
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23721
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13231
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4272
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2597
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1952
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 743
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3145
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ile109Ile
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS

3-113503195-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113503195
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 113503195
    reference: chr 3
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000417545
  ensembl transcript: ENST00000496747
  gene symbol: ATP6V1A
  hgvsc: ENST00000496747.1:c.237G>T
  hgvsp: ENSP00000417545.1:p.Gln79His
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000273398
  ensembl transcript: ENST00000273398
  gene symbol: ATP6V1A
  hgvsc: ENST00000273398.3:c.336G>T
  hgvsp: ENSP00000273398.3:p.Gln112His
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000439874
  ensembl transcript: ENST00000538620
  gene symbol: ATP6V1A
  hgvsc: ENST00000538620.1:c.237G>T
  hgvsp: ENSP00000439874.1:p.Gln79His
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000419294
  ensembl transcript: ENST00000475322
  gene symbol: ATP6V1A
  hgvsc: ENST00000475322.1:c.336G>T
  hgvsp: ENSP00000419294.1:p.Gln112His
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000420146
  ensembl transcript: ENST00000470455
  gene symbol: ATP6V1A
  hgvsc: ENST00000470455.1:c.*238G>T
  variant of: http://identifiers.org/hgnc/851
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13230
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14182
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4270
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23721
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1798
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4380
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9464
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3145
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1953
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37336
  bin: 6.25e1
  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
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gln112His
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

3-113503198-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113503198
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 113503198
    reference: chr 3
allele count: 26
allele frequency: 2.141539272535582e-4
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000417545
  ensembl transcript: ENST00000496747
  gene symbol: ATP6V1A
  hgvsc: ENST00000496747.1:c.240C>T
  hgvsp: ENST00000496747.1:c.240C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000273398
  ensembl transcript: ENST00000273398
  gene symbol: ATP6V1A
  hgvsc: ENST00000273398.3:c.339C>T
  hgvsp: ENST00000273398.3:c.339C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000419294
  ensembl transcript: ENST00000475322
  gene symbol: ATP6V1A
  hgvsc: ENST00000475322.1:c.339C>T
  hgvsp: ENST00000475322.1:c.339C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000439874
  ensembl transcript: ENST00000538620
  gene symbol: ATP6V1A
  hgvsc: ENST00000538620.1:c.240C>T
  hgvsp: ENST00000538620.1:c.240C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000420146
  ensembl transcript: ENST00000470455
  gene symbol: ATP6V1A
  hgvsc: ENST00000470455.1:c.*241C>T
  variant of: http://identifiers.org/hgnc/851
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23716
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13228
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14179
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4266
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1795
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 9.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 743
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3141
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4391
  bin: 9.75e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37335
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr113Thr
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: African
reference allele: C
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum

3-113503200-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113503200
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 113503200
    reference: chr 3
allele count: 4
allele frequency: 3.294675803900896e-5
allele num: 121408
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000419294
  ensembl transcript: ENST00000475322
  gene symbol: ATP6V1A
  hgvsc: ENST00000475322.1:c.341A>G
  hgvsp: ENSP00000419294.1:p.Gln114Arg
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000273398
  ensembl transcript: ENST00000273398
  gene symbol: ATP6V1A
  hgvsc: ENST00000273398.3:c.341A>G
  hgvsp: ENSP00000273398.3:p.Gln114Arg
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000417545
  ensembl transcript: ENST00000496747
  gene symbol: ATP6V1A
  hgvsc: ENST00000496747.1:c.242A>G
  hgvsp: ENSP00000417545.1:p.Gln81Arg
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000420146
  ensembl transcript: ENST00000470455
  gene symbol: ATP6V1A
  hgvsc: ENST00000470455.1:c.*243A>G
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000439874
  ensembl transcript: ENST00000538620
  gene symbol: ATP6V1A
  hgvsc: ENST00000538620.1:c.242A>G
  hgvsp: ENSP00000439874.1:p.Gln81Arg
  variant of: http://identifiers.org/hgnc/851
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13238
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14177
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23730
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1795
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4265
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37355
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4369
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 3144
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2594
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gln114Arg
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

3-113503228-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113503228
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 113503228
    reference: chr 3
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000273398
  ensembl transcript: ENST00000273398
  gene symbol: ATP6V1A
  hgvsc: ENST00000273398.3:c.369C>T
  hgvsp: ENST00000273398.3:c.369C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000417545
  ensembl transcript: ENST00000496747
  gene symbol: ATP6V1A
  hgvsc: ENST00000496747.1:c.270C>T
  hgvsp: ENST00000496747.1:c.270C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000420146
  ensembl transcript: ENST00000470455
  gene symbol: ATP6V1A
  hgvsc: ENST00000470455.1:c.*271C>T
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000419294
  ensembl transcript: ENST00000475322
  gene symbol: ATP6V1A
  hgvsc: ENST00000475322.1:c.369C>T
  hgvsp: ENST00000475322.1:c.369C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000439874
  ensembl transcript: ENST00000538620
  gene symbol: ATP6V1A
  hgvsc: ENST00000538620.1:c.270C>T
  hgvsp: ENST00000538620.1:c.270C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/851
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23726
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13236
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14174
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4266
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9466
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37347
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2593
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4365
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1079
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1949
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asn123Asn
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: C
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

3-113503229-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113503229
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 113503229
    reference: chr 3
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000273398
  ensembl transcript: ENST00000273398
  gene symbol: ATP6V1A
  hgvsc: ENST00000273398.3:c.370G>A
  hgvsp: ENSP00000273398.3:p.Val124Met
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000419294
  ensembl transcript: ENST00000475322
  gene symbol: ATP6V1A
  hgvsc: ENST00000475322.1:c.370G>A
  hgvsp: ENSP00000419294.1:p.Val124Met
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000420146
  ensembl transcript: ENST00000470455
  gene symbol: ATP6V1A
  hgvsc: ENST00000470455.1:c.*272G>A
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000417545
  ensembl transcript: ENST00000496747
  gene symbol: ATP6V1A
  hgvsc: ENST00000496747.1:c.271G>A
  hgvsp: ENSP00000417545.1:p.Val91Met
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000439874
  ensembl transcript: ENST00000538620
  gene symbol: ATP6V1A
  hgvsc: ENST00000538620.1:c.271G>A
  hgvsp: ENSP00000439874.1:p.Val91Met
  variant of: http://identifiers.org/hgnc/851
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4267
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13237
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14172
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23726
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37348
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9464
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3142
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2593
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1079
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val124Met
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQ

3-113503231-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113503231
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 113503231
    reference: chr 3
allele count: 2
allele frequency: 1.647527884409444e-5
allele num: 121394
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000417545
  ensembl transcript: ENST00000496747
  gene symbol: ATP6V1A
  hgvsc: ENST00000496747.1:c.273G>C
  hgvsp: ENST00000496747.1:c.273G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000439874
  ensembl transcript: ENST00000538620
  gene symbol: ATP6V1A
  hgvsc: ENST00000538620.1:c.273G>C
  hgvsp: ENST00000538620.1:c.273G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000420146
  ensembl transcript: ENST00000470455
  gene symbol: ATP6V1A
  hgvsc: ENST00000470455.1:c.*274G>C
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000419294
  ensembl transcript: ENST00000475322
  gene symbol: ATP6V1A
  hgvsc: ENST00000475322.1:c.372G>C
  hgvsp: ENST00000475322.1:c.372G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/851
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114573
  ensembl protein: ENSP00000273398
  ensembl transcript: ENST00000273398
  gene symbol: ATP6V1A
  hgvsc: ENST00000273398.3:c.372G>C
  hgvsp: ENST00000273398.3:c.372G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/851
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14175
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13237
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23720
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4267
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val124Val
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 2585
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1516
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 10247
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 330
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17555
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5481
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5469
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1691
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13452
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.689189189189189e-4
allele num: 5920
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51884
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7234
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8666
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10282
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.7e-3

MQ
type: SiteQuality
SIO_000300: 6.113e1

MQRankSum
type: SiteQuality
SIO_000300: 5.29e-1

QD
type: SiteQuality
SIO_000300: 1.657e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.25e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.179999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.37e-1

DP
type: SiteQuality
SIO_000300: 9.74255e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.44e-1

GenotypeQuality
all individuals: 1917
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5249
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12377
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2399
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1121
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5000
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5680
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47204
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6534
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7892
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9742
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 754
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.982120051085569e-5
allele num: 12528
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.52451e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.93e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.117e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.29e0

MQ
type: SiteQuality
SIO_000300: 5.833e1

MQRankSum
type: SiteQuality
SIO_000300: -1.625e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.276e1

GenotypeQuality
all individuals: 75
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 548
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7266
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3422
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 126
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.78e-1

QD
type: SiteQuality
SIO_000300: 9.98e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.6e-2

FS
type: SiteQuality
SIO_000300: 6.038e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.65e-2

VQSLOD
type: SiteQuality
SIO_000300: 7.97e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.12e-1

DP
type: SiteQuality
SIO_000300: 1.5226e5

GenotypeQuality
all individuals: 115
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 9.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 126
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3422
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 548
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 1.376273052573631e-4
allele num: 7266
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.5226e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 7.97e-1

QD
type: SiteQuality
SIO_000300: 9.98e0

FS
type: SiteQuality
SIO_000300: 6.038e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.65e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -7.12e-1

GenotypeQuality
all individuals: 735
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 249
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 7.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 200
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 570
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.760905577029266e-4
allele num: 3622
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7612
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.99e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.8e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.8e-2

DP
type: SiteQuality
SIO_000300: 1.60196e5

QD
type: SiteQuality
SIO_000300: 7.34e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.277e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.05e-1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 5

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 582
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7608
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 1.360914534567229e-3
allele num: 3674
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 206
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.19e0

DP
type: SiteQuality
SIO_000300: 1.64876e5

MQ
type: SiteQuality
SIO_000300: 5.939e1

VQSLOD
type: SiteQuality
SIO_000300: -4.175e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.62e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 8.2e-2

FS
type: SiteQuality
SIO_000300: 1.757e0

MQRankSum
type: SiteQuality
SIO_000300: 3.74e-1

QD
type: SiteQuality
SIO_000300: 9.65e0

GenotypeQuality
all individuals: 27
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4558
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 192
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.71591526344378e-4
allele num: 3682
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 592
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7580
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.55e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.77e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.6e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.031e0

FS
type: SiteQuality
SIO_000300: 1.691e0

MQRankSum
type: SiteQuality
SIO_000300: 7.199999999999999e-2

QD
type: SiteQuality
SIO_000300: 5.86e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.64522e5

GenotypeQuality
all individuals: 388
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 83
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 24
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 134
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.336898395721925e-4
allele num: 7480
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 4.807692307692308e-3
allele num: 208
num of homozygotes: 0

African
type: Population
allele count: 10
allele frequency: 1.557632398753894e-2
allele num: 642
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3768
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 240
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.28e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.01e-1

QD
type: SiteQuality
SIO_000300: 1.389e1

DP
type: SiteQuality
SIO_000300: 1.62641e5

ClippingRankSum
type: SiteQuality
SIO_000300: -3.47e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.554e0

MQRankSum
type: SiteQuality
SIO_000300: 5.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.43e-2

GenotypeQuality
all individuals: 3509
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 879
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 761
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2487
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1827
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8472
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11154
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64214
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11366
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.759906304899473e-5
allele num: 10246
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.64e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.64e-1

QD
type: SiteQuality
SIO_000300: 4.45e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.297e0

VQSLOD
type: SiteQuality
SIO_000300: -2.578e0

FS
type: SiteQuality
SIO_000300: 1.96e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.9e-1

DP
type: SiteQuality
SIO_000300: 1.900429e6

GenotypeQuality
all individuals: 275
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 760
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variant carriers: 0

GenotypeQuality
all individuals: 18147
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 175
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variant carriers: 0

GenotypeQuality
all individuals: 4082
bin: 8.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8484
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.554049853919314e-5
allele num: 64348
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10256
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11348
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11392
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.915e0

VQSLOD
type: SiteQuality
SIO_000300: 2.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.29e0

DP
type: SiteQuality
SIO_000300: 1.937297e6

MQ
type: SiteQuality
SIO_000300: 5.945e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.052e0

QD
type: SiteQuality
SIO_000300: 1.431e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 450
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GenotypeQuality
all individuals: 3393
bin: 2.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8512
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5500031000062e-5
allele num: 64516
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.25e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -3.569e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.93e0

MQRankSum
type: SiteQuality
SIO_000300: 8.5e-1

QD
type: SiteQuality
SIO_000300: 2.719e1

FS
type: SiteQuality
SIO_000300: 2.625e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.900000000000001e-3

DP
type: SiteQuality
SIO_000300: 1.955078e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.103e0

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

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.591065292096221e-5
allele num: 11640
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64608
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10282
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8520
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11438
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 6.07e-1

QD
type: SiteQuality
SIO_000300: 1.715e1

DP
type: SiteQuality
SIO_000300: 1.959324e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.253e0

VQSLOD
type: SiteQuality
SIO_000300: -2.809e0

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11444
num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11670
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64632
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.725734292939116e-5
allele num: 10282
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.960811e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.19e-1

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.829e1

GenotypeQuality
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variant carriers: 0

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

African
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allele frequency: 0.0e0
allele num: 10284
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.171783454417624e-4
allele num: 8534
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64702
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11722
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.850000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.95e0

FS
type: SiteQuality
SIO_000300: 4.027e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.93e-1

QD
type: SiteQuality
SIO_000300: 9.390000000000001e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.963778e6

VQSLOD
type: SiteQuality
SIO_000300: -6.33e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

GenotypeQuality
all individuals: 44
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8442
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2644
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4251
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1997
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20296
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12488
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.70170553428472e-5
allele num: 11492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65174
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.514e0

MQ
type: SiteQuality
SIO_000300: 5.906e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.79e-1

FS
type: SiteQuality
SIO_000300: 6.504e0

MQRankSum
type: SiteQuality
SIO_000300: 4.93e-1

DP
type: SiteQuality
SIO_000300: 1.98552e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.22e-1

QD
type: SiteQuality
SIO_000300: 7.84e0

VQSLOD
type: SiteQuality
SIO_000300: -1.346e0

GenotypeQuality
all individuals: 2654
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3808
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2002
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9323
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65554
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13520
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.056e0

DP
type: SiteQuality
SIO_000300: 2.00126e6

MQ
type: SiteQuality
SIO_000300: 5.725e1

QD
type: SiteQuality
SIO_000300: 1.417e1

MQRankSum
type: SiteQuality
SIO_000300: 8.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 6.63e0

FS
type: SiteQuality
SIO_000300: 6.96e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 4.14e-1

GenotypeQuality
all individuals: 263
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 430
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2614
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2107
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 922
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8906
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2923
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65156
num of homozygotes: 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: 2
allele frequency: 1.396453009356235e-4
allele num: 14322
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10288
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6562
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.022e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.21e0

MQRankSum
type: SiteQuality
SIO_000300: 1.11e-1

DP
type: SiteQuality
SIO_000300: 2.834966e6

QD
type: SiteQuality
SIO_000300: 1.258e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.69e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.282e0

MQ
type: SiteQuality
SIO_000300: 5.857e1

VQSLOD
type: SiteQuality
SIO_000300: -1.055e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

GenotypeQuality
all individuals: 987
bin: 5.75e1
variant carriers: 201

GenotypeQuality
all individuals: 716
bin: 8.25e1
variant carriers: 175

GenotypeQuality
all individuals: 877
bin: 7.75e1
variant carriers: 219

GenotypeQuality
all individuals: 536
bin: 9.25e1
variant carriers: 187

GenotypeQuality
all individuals: 1473
bin: 3.75e1
variant carriers: 127

GenotypeQuality
all individuals: 4552
bin: 9.75e1
variant carriers: 2571

European (Finnish)
type: Population
allele count: 757
allele frequency: 3.475665748393021e-1
allele num: 2178
num of homozygotes: 0

East Asian
type: Population
allele count: 432
allele frequency: 1.363636363636364e-1
allele num: 3168
num of homozygotes: 0

Latino
type: Population
allele count: 496
allele frequency: 1.223482979773064e-1
allele num: 4054
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2517
allele frequency: 7.790157845868152e-2
allele num: 32310
num of homozygotes: 0

South Asian
type: Population
allele count: 440
allele frequency: 5.751633986928104e-2
allele num: 7650
num of homozygotes: 0

African
type: Population
allele count: 462
allele frequency: 1.035874439461883e-1
allele num: 4460
num of homozygotes: 0

Other
type: Population
allele count: 45
allele frequency: 1.119402985074627e-1
allele num: 402
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.9e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.5e-2

VQSLOD
type: SiteQuality
SIO_000300: -4.449e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.188e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.81e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.43e-1

FS
type: SiteQuality
SIO_000300: 1.11978e2

MQRankSum
type: SiteQuality
SIO_000300: -1.66e-1

DP
type: SiteQuality
SIO_000300: 2.058526e6

QD
type: SiteQuality
SIO_000300: 2.59e0

GenotypeQuality
all individuals: 1550
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 859
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4209
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16236
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 917
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1455
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65058
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.982265046781176e-5
allele num: 14322
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11374
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.265e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.12e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.013373e6

QD
type: SiteQuality
SIO_000300: 8.5e0

GenotypeQuality
all individuals: 1837
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3532
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2762
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1412
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3757
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15332
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64130
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.792401096748923e-5
allele num: 10212
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5742
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.7825311942959e-4
allele num: 11220
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14038
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8506
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.6965e1

MQRankSum
type: SiteQuality
SIO_000300: -4.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.18e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.68e-1

DP
type: SiteQuality
SIO_000300: 1.977167e6

MQ
type: SiteQuality
SIO_000300: 5.859e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

VQSLOD
type: SiteQuality
SIO_000300: -3.571e1

QD
type: SiteQuality
SIO_000300: 3.22e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.662e0

GenotypeQuality
all individuals: 3757
bin: 2.25e1
variant carriers: 4

GenotypeQuality
all individuals: 1089
bin: 5.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1412
bin: 2.75e1
variant carriers: 7

GenotypeQuality
all individuals: 1866
bin: 4.75e1
variant carriers: 5

GenotypeQuality
all individuals: 5116
bin: 6.75e1
variant carriers: 5

GenotypeQuality
all individuals: 3861
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 43
allele frequency: 7.488679902473006e-3
allele num: 5742
num of homozygotes: 0

East Asian
type: Population
allele count: 5
allele frequency: 5.878203620973431e-4
allele num: 8506
num of homozygotes: 0

Other
type: Population
allele count: 4
allele frequency: 4.750593824228029e-3
allele num: 842
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 18
allele frequency: 2.806798690160611e-4
allele num: 64130
num of homozygotes: 0

African
type: Population
allele count: 9
allele frequency: 8.813160987074031e-4
allele num: 10212
num of homozygotes: 0

Latino
type: Population
allele count: 7
allele frequency: 6.238859180035651e-4
allele num: 11220
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.424704373842428e-4
allele num: 14038
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 3.22e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.18e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.571e1

FS
type: SiteQuality
SIO_000300: 8.6965e1

MQ
type: SiteQuality
SIO_000300: 5.859e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.68e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.662e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

DP
type: SiteQuality
SIO_000300: 1.977167e6

GenotypeQuality
all individuals: 3019
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2297
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 674
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3925
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 804
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.691800736576855e-5
allele num: 10318
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.60546515198035e-4
allele num: 6514
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11376
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.1441647597254e-3
allele num: 874
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14388
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.534401276621862e-5
allele num: 65172
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.092e1

MQRankSum
type: SiteQuality
SIO_000300: -4.96e-1

FS
type: SiteQuality
SIO_000300: 7.7196e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.331e0

QD
type: SiteQuality
SIO_000300: 2.33e0

DP
type: SiteQuality
SIO_000300: 2.007754e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.737e0

MQ
type: SiteQuality
SIO_000300: 5.521e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.53e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

GenotypeQuality
all individuals: 2333
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1238
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1296
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3994
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 429
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11503
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.531815814466469e-5
allele num: 65282
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10322
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11408
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14460
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.96e-1

QD
type: SiteQuality
SIO_000300: 3.9e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.418e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.646e0

VQSLOD
type: SiteQuality
SIO_000300: -3.319e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.67e-1

DP
type: SiteQuality
SIO_000300: 2.018442e6

MQ
type: SiteQuality
SIO_000300: 5.884e1

GenotypeQuality
all individuals: 419
bin: 5.25e1
variant carriers: 3

GenotypeQuality
all individuals: 182
bin: 7.5e0
variant carriers: 2

GenotypeQuality
all individuals: 15961
bin: 9.75e1
variant carriers: 21

GenotypeQuality
all individuals: 499
bin: 5.75e1
variant carriers: 9

GenotypeQuality
all individuals: 160
bin: 1.75e1
variant carriers: 6

GenotypeQuality
all individuals: 12875
bin: 6.25e1
variant carriers: 4

European (Non-Finnish)
type: Population
allele count: 46
allele frequency: 7.047000428947852e-4
allele num: 65276
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.633426966292135e-4
allele num: 11392
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 4.142502071251035e-4
allele num: 14484
num of homozygotes: 0

East Asian
type: Population
allele count: 8
allele frequency: 9.326183259501049e-4
allele num: 8578
num of homozygotes: 0

African
type: Population
allele count: 9
allele frequency: 8.720930232558139e-4
allele num: 10320
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 6
allele frequency: 9.637006103437199e-4
allele num: 6226
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.733e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.46e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.04997e6

QD
type: SiteQuality
SIO_000300: 3.25e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 1.8974e1

VQSLOD
type: SiteQuality
SIO_000300: -2.866e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.156e0

GenotypeQuality
all individuals: 7265
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16261
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3264
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4333
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.513683700653911e-5
allele num: 66064
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15386
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 6
allele frequency: 9.538950715421304e-4
allele num: 6290
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11524
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 2.4e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.517e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.33e0

DP
type: SiteQuality
SIO_000300: 2.104549e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.724e0

FS
type: SiteQuality
SIO_000300: 8.5229e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.62e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -3.448e1

MQ
type: SiteQuality
SIO_000300: 5.664e1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15480
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.510893542441e-5
allele num: 66186
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.45e-1

DP
type: SiteQuality
SIO_000300: 2.107259e6

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

FS
type: SiteQuality
SIO_000300: 6.529e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.9e-1

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.183e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66302
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.570383912248629e-4
allele num: 6564
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
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: 0
allele frequency: 0.0e0
allele num: 15704
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.885e0

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -4.238e0

DP
type: SiteQuality
SIO_000300: 2.112818e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.79e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

FS
type: SiteQuality
SIO_000300: 6.9869e1

QD
type: SiteQuality
SIO_000300: 2.4e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.352e1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.504800312998465e-5
allele num: 66454
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15996
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.241e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.968e1

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.466e0

MQRankSum
type: SiteQuality
SIO_000300: -1.058e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.44e0

FS
type: SiteQuality
SIO_000300: 8.407e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.069e1

DP
type: SiteQuality
SIO_000300: 2.122372e6

GenotypeQuality
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variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.513721714010592e-5
allele num: 66464
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.879999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

MQRankSum
type: SiteQuality
SIO_000300: -5.24e-1

DP
type: SiteQuality
SIO_000300: 2.123003e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.04e0

VQSLOD
type: SiteQuality
SIO_000300: 5.23e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.26e-1

QD
type: SiteQuality
SIO_000300: 1.318e1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66480
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.22975330176925e-5
allele num: 16052
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.257e1

MQ
type: SiteQuality
SIO_000300: 5.905e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.656e0

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.356e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.123273e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.702e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.92e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 1
allele frequency: 9.615384615384615e-5
allele num: 10400
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66496
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16078
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.123928e6

VQSLOD
type: SiteQuality
SIO_000300: -1.501e0

QD
type: SiteQuality
SIO_000300: 1.123e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.881e1

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 4.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.4e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.36e-1

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

African
type: Population
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allele frequency: 9.615384615384615e-5
allele num: 10400
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16178
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66540
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 2.233e0

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.502765087761481e-5
allele num: 66544
num of homozygotes: 0

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.38e-1

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
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MQ
type: SiteQuality
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DP
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InbreedingCoeff
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FS
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ClippingRankSum
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66436
num of homozygotes: 0

Latino
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African
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South Asian
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num of homozygotes: 0

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

South Asian
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African
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East Asian
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European (Finnish)
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European (Non-Finnish)
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allele frequency: 1.50952510340247e-5
allele num: 66246
num of homozygotes: 0

Other
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num of homozygotes: 0

FS
type: SiteQuality
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MQ
type: SiteQuality
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QD
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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MQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.864e1

VQSLOD
type: SiteQuality
SIO_000300: -4.513e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.46e-1

QD
type: SiteQuality
SIO_000300: 1.12e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.4e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 8.110000000000001e-1

DP
type: SiteQuality
SIO_000300: 2.08949e6

GenotypeQuality
all individuals: 452
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3303
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13754
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.046736944732192e-5
allele num: 65644
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10352
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.941e1

MQRankSum
type: SiteQuality
SIO_000300: -3.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 8.91e-1

FS
type: SiteQuality
SIO_000300: 6.57e-1

QD
type: SiteQuality
SIO_000300: 1.408e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.849e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.389999999999999e-1

DP
type: SiteQuality
SIO_000300: 2.071231e6

GenotypeQuality
all individuals: 37
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 9.75e1
variant carriers: 13

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 16
allele frequency: 2.442971875286286e-4
allele num: 65494
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: 870
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 3.873716831299632e-4
allele num: 10326
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13592
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

VQSLOD
type: SiteQuality
SIO_000300: -7.449e0

QD
type: SiteQuality
SIO_000300: 7.2e-1

MQ
type: SiteQuality
SIO_000300: 5.418e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.664e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.129999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.77e-1

FS
type: SiteQuality
SIO_000300: 3.3987e1

DP
type: SiteQuality
SIO_000300: 2.072995e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.58e0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7092
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.525087692542321e-5
allele num: 65570
num of homozygotes: 0

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.75e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.58e-1

MQ
type: SiteQuality
SIO_000300: 5.941e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.021e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 3.28e-1

DP
type: SiteQuality
SIO_000300: 2.072396e6

MQRankSum
type: SiteQuality
SIO_000300: -9.31e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.327e1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13068
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.530456075910621e-5
allele num: 65340
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10342
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.56e-1

MQ
type: SiteQuality
SIO_000300: 5.929e1

DP
type: SiteQuality
SIO_000300: 2.065486e6

VQSLOD
type: SiteQuality
SIO_000300: 5.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.08e-1

QD
type: SiteQuality
SIO_000300: 1.413e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

FS
type: SiteQuality
SIO_000300: 1.124e0

MQRankSum
type: SiteQuality
SIO_000300: 7.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

GenotypeQuality
all individuals: 12745
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 208
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7058
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variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 9
allele frequency: 1.042149143121816e-3
allele num: 8636
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13030
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10342
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65330
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.895e1

VQSLOD
type: SiteQuality
SIO_000300: 6.62e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.75e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.03e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.7e-1

DP
type: SiteQuality
SIO_000300: 2.065971e6

QD
type: SiteQuality
SIO_000300: 1.477e1

GenotypeQuality
all individuals: 4369
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.676795045480937e-5
allele num: 10334
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65248
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12764
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.25e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.54e-1

DP
type: SiteQuality
SIO_000300: 2.062841e6

FS
type: SiteQuality
SIO_000300: 3.038e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.78e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.38e-1

QD
type: SiteQuality
SIO_000300: 1.595e1

MQ
type: SiteQuality
SIO_000300: 5.917e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 505
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12244
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65064
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11516
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.058337e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.56e0

QD
type: SiteQuality
SIO_000300: 1.398e1

FS
type: SiteQuality
SIO_000300: 2.228e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.85e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

MQRankSum
type: SiteQuality
SIO_000300: 1.24e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.7e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 16767
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variant carriers: 1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10306
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11794
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.540215014015957e-5
allele num: 64926
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.79e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.26e-1

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.05677e6

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.957e1

QD
type: SiteQuality
SIO_000300: 1.385e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

FS
type: SiteQuality
SIO_000300: 1.4302e1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.737015806843842e-4
allele num: 11514
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11820
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.693679720822024e-5
allele num: 10316
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64936
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.72e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.89e-1

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.914e1

GenotypeQuality
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variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11464
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16350
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66248
num of homozygotes: 0

African
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allele num: 10216
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.168497312456181e-4
allele num: 8558
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.99e-1

DP
type: SiteQuality
SIO_000300: 1.778543e6

MQRankSum
type: SiteQuality
SIO_000300: -1.368e0

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 8.86e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.02e-1

MQ
type: SiteQuality
SIO_000300: 5.918e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.86e-1

GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16374
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66298
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11480
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: 904
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.79032e6

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.844e1

QD
type: SiteQuality
SIO_000300: 1.604e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.418e0

GenotypeQuality
all individuals: 4442
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1098
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9374
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1972
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.074596039363382e-5
allele num: 16462
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10290
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.72e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.69e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 6.59e-1

QD
type: SiteQuality
SIO_000300: 1.164e1

MQRankSum
type: SiteQuality
SIO_000300: 1.9e-2

DP
type: SiteQuality
SIO_000300: 1.817557e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.538e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

GenotypeQuality
all individuals: 746
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1972
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1098
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 2.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10292
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.072382803011902e-5
allele num: 16468
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66460
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.93e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.68e-1

QD
type: SiteQuality
SIO_000300: 1.129e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.965e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.7e0

DP
type: SiteQuality
SIO_000300: 1.818488e6

GenotypeQuality
all individuals: 3164
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4438
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 65
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
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variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 3.75e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.004085556356645e-5
allele num: 66576
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -7.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.35e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.4e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.12e-1

DP
type: SiteQuality
SIO_000300: 1.823331e6

QD
type: SiteQuality
SIO_000300: 1.047e1

GenotypeQuality
all individuals: 1095
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36894
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3167
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10330
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66612
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 1.349e1

MQRankSum
type: SiteQuality
SIO_000300: -1.28e-1

FS
type: SiteQuality
SIO_000300: 1.62e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.28e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.264e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.82e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.2e0

DP
type: SiteQuality
SIO_000300: 1.824344e6

GenotypeQuality
all individuals: 19
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4544
bin: 9.75e1
variant carriers: 154

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2594
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 4.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 155
allele frequency: 9.392800872621501e-3
allele num: 16502
num of homozygotes: 2

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66626
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.674922600619196e-5
allele num: 10336
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.053e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.42e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.55e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.337e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.2e-1

DP
type: SiteQuality
SIO_000300: 1.829573e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.28e-1

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4396
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3151
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variant carriers: 0

GenotypeQuality
all individuals: 1088
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1961
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10356
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 1.541e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.17e0

FS
type: SiteQuality
SIO_000300: 1.479e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.95e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.97e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.767e-1

MQ
type: SiteQuality
SIO_000300: 5.944e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.09e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.726e0

DP
type: SiteQuality
SIO_000300: 1.826238e6

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

GenotypeQuality
all individuals: 4396
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 745
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1086
bin: 9.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66706
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: 908
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 5.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.45e0

FS
type: SiteQuality
SIO_000300: 1.0697e1

MQ
type: SiteQuality
SIO_000300: 5.957e1

VQSLOD
type: SiteQuality
SIO_000300: -9.694e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.14e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.0e-2

QD
type: SiteQuality
SIO_000300: 1.537e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.827359e6

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

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 9466
bin: 6.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498800959232614e-5
allele num: 66720
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.981e1

VQSLOD
type: SiteQuality
SIO_000300: 6.74e-1

DP
type: SiteQuality
SIO_000300: 1.827709e6

QD
type: SiteQuality
SIO_000300: 1.31e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.350000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.364e0

MQRankSum
type: SiteQuality
SIO_000300: -7.9e-1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2599
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1086
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 5
allele frequency: 7.559721802237678e-4
allele num: 6614
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.58e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

VQSLOD
type: SiteQuality
SIO_000300: 1.91e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.06e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.62e-2

DP
type: SiteQuality
SIO_000300: 1.828818e6

FS
type: SiteQuality
SIO_000300: 1.162e0

QD
type: SiteQuality
SIO_000300: 1.322e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.44e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.26e-1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 745
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.495324862143371e-5
allele num: 66736
num of homozygotes: 0

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.21e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.59e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.12e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.142e1

DP
type: SiteQuality
SIO_000300: 1.828396e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.55e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.3e-1

MQ
type: SiteQuality
SIO_000300: 5.954e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.841e0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4395
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variant carriers: 1

GenotypeQuality
all individuals: 37295
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.828328e6

MQRankSum
type: SiteQuality
SIO_000300: -1.124e0

VQSLOD
type: SiteQuality
SIO_000300: 2.84e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.16e-1

FS
type: SiteQuality
SIO_000300: 5.572e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.61e-1

QD
type: SiteQuality
SIO_000300: 1.203e1

GenotypeQuality
all individuals: 3147
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 746
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1086
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.640055296353897e-5
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East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
allele num: 10404
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

South Asian
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ClippingRankSum
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SIO_000300: -9.02e-1

BaseQRankSum
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ReadPosRankSum
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FS
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QD
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DP
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MQ
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MQRankSum
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SIO_000300: -9.09e-1

InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

African
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allele frequency: 0.0e0
allele num: 10404
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Latino
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allele frequency: 0.0e0
allele num: 11574
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

East Asian
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allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

Other
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allele num: 908
num of homozygotes: 0

South Asian
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BaseQRankSum
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QD
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ReadPosRankSum
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MQ
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
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FS
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 2.996793431028799e-5
allele num: 66738
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

InbreedingCoeff
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QD
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BaseQRankSum
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ReadPosRankSum
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FS
type: SiteQuality
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MQRankSum
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DP
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 2.58e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

African
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allele frequency: 0.0e0
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European (Finnish)
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European (Non-Finnish)
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allele num: 66740
num of homozygotes: 0

South Asian
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Latino
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Other
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num of homozygotes: 0

ClippingRankSum
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MQ
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ReadPosRankSum
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InbreedingCoeff
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DP
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BaseQRankSum
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FS
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QD
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MQRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 2.996703626011388e-5
allele num: 66740
num of homozygotes: 0

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

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

Latino
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num of homozygotes: 0

South Asian
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num of homozygotes: 0

InbreedingCoeff
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FS
type: SiteQuality
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MQRankSum
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DP
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QD
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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MQ
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SIO_000300: 5.958e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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num of homozygotes: 0

Latino
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allele count: 25
allele frequency: 2.159640635798203e-3
allele num: 11576
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European (Finnish)
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allele frequency: 0.0e0
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African
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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East Asian
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QD
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DP
type: SiteQuality
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VQSLOD
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FS
type: SiteQuality
SIO_000300: 5.21e-1

MQRankSum
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InbreedingCoeff
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MQ
type: SiteQuality
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 2.996703626011388e-5
allele num: 66740
num of homozygotes: 0

East Asian
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African
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Other
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Latino
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South Asian
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allele num: 16512
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European (Finnish)
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num of homozygotes: 0

FS
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
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DP
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MQRankSum
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InbreedingCoeff
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VQSLOD
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MQ
type: SiteQuality
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QD
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ClippingRankSum
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GenotypeQuality
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variant carriers: 18

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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European (Non-Finnish)
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allele num: 66740
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East Asian
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Other
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African
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South Asian
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allele num: 16512
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DP
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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MQ
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FS
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QD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

East Asian
type: Population
allele count: 24
allele frequency: 2.773284030506125e-3
allele num: 8654
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.964e1

FS
type: SiteQuality
SIO_000300: 1.125e0

QD
type: SiteQuality
SIO_000300: 1.169e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.733e0

DP
type: SiteQuality
SIO_000300: 1.829887e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.97e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.51e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.21e0

MQRankSum
type: SiteQuality
SIO_000300: 2.59e-1

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

GenotypeQuality
all individuals: 1079
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9466
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1950
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 743
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.422480620155039e-4
allele num: 16512
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.5e-2

FS
type: SiteQuality
SIO_000300: 8.47e-1

DP
type: SiteQuality
SIO_000300: 1.827727e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.610000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.88e-1

QD
type: SiteQuality
SIO_000300: 1.399e1

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

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

GenotypeQuality
all individuals: 3143
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 743
bin: 8.75e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.332e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.76e0

QD
type: SiteQuality
SIO_000300: 1.145e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.05e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.28e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.827512e6

VQSLOD
type: SiteQuality
SIO_000300: 2.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.36e-1

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

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

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

GenotypeQuality
all individuals: 743
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4365
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1949
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.65e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.26e0

QD
type: SiteQuality
SIO_000300: 1.468e1

DP
type: SiteQuality
SIO_000300: 1.827383e6

MQ
type: SiteQuality
SIO_000300: 5.923e1