16-89715878-C-CACACTCT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89715878
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89715885
    reference: chr 16
allele count: 1
allele frequency: 8.341953351796856e-6
allele num: 119876
alternate allele: CACACTCT
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000380998
  ensembl transcript: ENST00000397901
  gene symbol: CHMP1A
  hgvsc: ENST00000397901.3:c.126_132dupAGAGTGT
  hgvsp: ENSP00000380998.3:p.Ala45ArgfsTer206
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000549139
  gene symbol: CHMP1A
  hgvsc: ENST00000549139.1:n.117_123dupAGAGTGT
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: stop_gained
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000253475
  ensembl transcript: ENST00000253475
  gene symbol: CHMP1A
  hgvsc: ENST00000253475.5:c.106_112dupAGAGTGT
  hgvsp: ENSP00000253475.5:p.Cys38Ter
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000442120
  ensembl transcript: ENST00000535997
  gene symbol: CHMP1A
  hgvsc: ENST00000535997.2:c.-67_-61dupAGAGTGT
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000548650
  gene symbol: CHMP1A
  hgvsc: ENST00000548650.1:n.63_69dupAGAGTGT
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000447899
  ensembl transcript: ENST00000549328
  gene symbol: CHMP1A
  hgvsc: ENST00000549328.1:c.126_132dupAGAGTGT
  hgvsp: ENSP00000447899.1:p.Ala45ArgfsTer114
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000550872
  gene symbol: CHMP1A
  hgvsc: ENST00000550872.1:n.235_241dupAGAGTGT
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000547614
  gene symbol: CHMP1A
  hgvsc: ENST00000547614.1:n.239_245dupAGAGTGT
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000449243
  ensembl transcript: ENST00000550102
  gene symbol: CHMP1A
  hgvsc: ENST00000550102.1:c.126_132dupAGAGTGT
  hgvsp: ENSP00000449243.1:p.Ala45ArgfsTer197
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000551981
  gene symbol: CHMP1A
  hgvsc: ENST00000551981.1:n.143_149dupAGAGTGT
  variant of: http://identifiers.org/hgnc/8740
canonical: false
consequence: stop gained
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 26546
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4176
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13669
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10516
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1940
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3341
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Cys38Ter
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

16-89715879-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89715879
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89715879
    reference: chr 16
allele count: 1
allele frequency: 8.342649291709075e-6
allele num: 119866
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000449243
  ensembl transcript: ENST00000550102
  gene symbol: CHMP1A
  hgvsc: ENST00000550102.1:c.132T>C
  hgvsp: ENST00000550102.1:c.132T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000550872
  gene symbol: CHMP1A
  hgvsc: ENST00000550872.1:n.241T>C
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000548650
  gene symbol: CHMP1A
  hgvsc: ENST00000548650.1:n.69T>C
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000253475
  ensembl transcript: ENST00000253475
  gene symbol: CHMP1A
  hgvsc: ENST00000253475.5:c.112T>C
  hgvsp: ENSP00000253475.5:p.Cys38Arg
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000547614
  gene symbol: CHMP1A
  hgvsc: ENST00000547614.1:n.245T>C
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000549139
  gene symbol: CHMP1A
  hgvsc: ENST00000549139.1:n.123T>C
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000551981
  gene symbol: CHMP1A
  hgvsc: ENST00000551981.1:n.149T>C
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000380998
  ensembl transcript: ENST00000397901
  gene symbol: CHMP1A
  hgvsc: ENST00000397901.3:c.132T>C
  hgvsp: ENST00000397901.3:c.132T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000447899
  ensembl transcript: ENST00000549328
  gene symbol: CHMP1A
  hgvsc: ENST00000549328.1:c.132T>C
  hgvsp: ENST00000549328.1:c.132T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000442120
  ensembl transcript: ENST00000535997
  gene symbol: CHMP1A
  hgvsc: ENST00000535997.2:c.-61T>C
  variant of: http://identifiers.org/hgnc/8740
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10522
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26547
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1941
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13663
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4177
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1273
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Cys38Arg
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

16-89715881-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89715881
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89715881
    reference: chr 16
allele count: 1
allele frequency: 8.34432002136146e-6
allele num: 119842
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000253475
  ensembl transcript: ENST00000253475
  gene symbol: CHMP1A
  hgvsc: ENST00000253475.5:c.110T>C
  hgvsp: ENSP00000253475.5:p.Val37Ala
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000549139
  gene symbol: CHMP1A
  hgvsc: ENST00000549139.1:n.121T>C
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000442120
  ensembl transcript: ENST00000535997
  gene symbol: CHMP1A
  hgvsc: ENST00000535997.2:c.-63T>C
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000551981
  gene symbol: CHMP1A
  hgvsc: ENST00000551981.1:n.147T>C
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000380998
  ensembl transcript: ENST00000397901
  gene symbol: CHMP1A
  hgvsc: ENST00000397901.3:c.130T>C
  hgvsp: ENSP00000380998.3:p.Cys44Arg
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000548650
  gene symbol: CHMP1A
  hgvsc: ENST00000548650.1:n.67T>C
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000449243
  ensembl transcript: ENST00000550102
  gene symbol: CHMP1A
  hgvsc: ENST00000550102.1:c.130T>C
  hgvsp: ENSP00000449243.1:p.Cys44Arg
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000447899
  ensembl transcript: ENST00000549328
  gene symbol: CHMP1A
  hgvsc: ENST00000549328.1:c.130T>C
  hgvsp: ENSP00000447899.1:p.Cys44Arg
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000550872
  gene symbol: CHMP1A
  hgvsc: ENST00000550872.1:n.239T>C
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000547614
  gene symbol: CHMP1A
  hgvsc: ENST00000547614.1:n.243T>C
  variant of: http://identifiers.org/hgnc/8740
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13648
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10514
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1941
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4170
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26537
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2426
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Cys44Arg
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS

16-89715881-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89715881
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89715881
    reference: chr 16
allele count: 8
allele frequency: 6.675456017089168e-5
allele num: 119842
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000547614
  gene symbol: CHMP1A
  hgvsc: ENST00000547614.1:n.243T>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000380998
  ensembl transcript: ENST00000397901
  gene symbol: CHMP1A
  hgvsc: ENST00000397901.3:c.130T>A
  hgvsp: ENSP00000380998.3:p.Cys44Ser
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000549139
  gene symbol: CHMP1A
  hgvsc: ENST00000549139.1:n.121T>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000253475
  ensembl transcript: ENST00000253475
  gene symbol: CHMP1A
  hgvsc: ENST00000253475.5:c.110T>A
  hgvsp: ENSP00000253475.5:p.Val37Glu
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000449243
  ensembl transcript: ENST00000550102
  gene symbol: CHMP1A
  hgvsc: ENST00000550102.1:c.130T>A
  hgvsp: ENSP00000449243.1:p.Cys44Ser
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000548650
  gene symbol: CHMP1A
  hgvsc: ENST00000548650.1:n.67T>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000447899
  ensembl transcript: ENST00000549328
  gene symbol: CHMP1A
  hgvsc: ENST00000549328.1:c.130T>A
  hgvsp: ENSP00000447899.1:p.Cys44Ser
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000442120
  ensembl transcript: ENST00000535997
  gene symbol: CHMP1A
  hgvsc: ENST00000535997.2:c.-63T>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000551981
  gene symbol: CHMP1A
  hgvsc: ENST00000551981.1:n.147T>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000550872
  gene symbol: CHMP1A
  hgvsc: ENST00000550872.1:n.239T>A
  variant of: http://identifiers.org/hgnc/8740
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4170
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13648
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10514
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26537
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1941
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10170
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Cys44Ser
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum

16-89715881-ACT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89715881
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89715879
    reference: chr 16
allele count: 1
allele frequency: 8.34432002136146e-6
allele num: 119842
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000442120
  ensembl transcript: ENST00000535997
  gene symbol: CHMP1A
  hgvsc: ENST00000535997.2:c.-65_-64delAG
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000253475
  ensembl transcript: ENST00000253475
  gene symbol: CHMP1A
  hgvsc: ENST00000253475.5:c.108_109delAG
  hgvsp: ENSP00000253475.5:p.Arg36SerfsTer18
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000447899
  ensembl transcript: ENST00000549328
  gene symbol: CHMP1A
  hgvsc: ENST00000549328.1:c.128_129delAG
  hgvsp: ENSP00000447899.1:p.Glu43ValfsTer113
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000548650
  gene symbol: CHMP1A
  hgvsc: ENST00000548650.1:n.65_66delAG
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000550872
  gene symbol: CHMP1A
  hgvsc: ENST00000550872.1:n.237_238delAG
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000380998
  ensembl transcript: ENST00000397901
  gene symbol: CHMP1A
  hgvsc: ENST00000397901.3:c.128_129delAG
  hgvsp: ENSP00000380998.3:p.Glu43ValfsTer205
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000551981
  gene symbol: CHMP1A
  hgvsc: ENST00000551981.1:n.145_146delAG
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000547614
  gene symbol: CHMP1A
  hgvsc: ENST00000547614.1:n.241_242delAG
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000549139
  gene symbol: CHMP1A
  hgvsc: ENST00000549139.1:n.119_120delAG
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000449243
  ensembl transcript: ENST00000550102
  gene symbol: CHMP1A
  hgvsc: ENST00000550102.1:c.128_129delAG
  hgvsp: ENSP00000449243.1:p.Glu43ValfsTer196
  variant of: http://identifiers.org/hgnc/8740
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13648
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1941
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26537
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10514
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4170
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Glu43ValfsTer205
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: ACT
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD

16-89715888-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89715888
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89715888
    reference: chr 16
allele count: 1
allele frequency: 8.354916868577158e-6
allele num: 119690
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000447899
  ensembl transcript: ENST00000549328
  gene symbol: CHMP1A
  hgvsc: ENST00000549328.1:c.123T>C
  hgvsp: ENST00000549328.1:c.123T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000550872
  gene symbol: CHMP1A
  hgvsc: ENST00000550872.1:n.232T>C
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000449243
  ensembl transcript: ENST00000550102
  gene symbol: CHMP1A
  hgvsc: ENST00000550102.1:c.123T>C
  hgvsp: ENST00000550102.1:c.123T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000442120
  ensembl transcript: ENST00000535997
  gene symbol: CHMP1A
  hgvsc: ENST00000535997.2:c.-70T>C
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000548650
  gene symbol: CHMP1A
  hgvsc: ENST00000548650.1:n.60T>C
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000547614
  gene symbol: CHMP1A
  hgvsc: ENST00000547614.1:n.236T>C
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000551981
  gene symbol: CHMP1A
  hgvsc: ENST00000551981.1:n.140T>C
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000253475
  ensembl transcript: ENST00000253475
  gene symbol: CHMP1A
  hgvsc: ENST00000253475.5:c.103T>C
  hgvsp: ENSP00000253475.5:p.Cys35Arg
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000380998
  ensembl transcript: ENST00000397901
  gene symbol: CHMP1A
  hgvsc: ENST00000397901.3:c.123T>C
  hgvsp: ENST00000397901.3:c.123T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000549139
  gene symbol: CHMP1A
  hgvsc: ENST00000549139.1:n.114T>C
  variant of: http://identifiers.org/hgnc/8740
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4143
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1931
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10567
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13518
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26413
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1000
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Cys35Arg
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD

16-89715889-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89715889
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89715889
    reference: chr 16
allele count: 1
allele frequency: 8.355056480181806e-6
allele num: 119688
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000550872
  gene symbol: CHMP1A
  hgvsc: ENST00000550872.1:n.231A>G
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000549139
  gene symbol: CHMP1A
  hgvsc: ENST00000549139.1:n.113A>G
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000380998
  ensembl transcript: ENST00000397901
  gene symbol: CHMP1A
  hgvsc: ENST00000397901.3:c.122A>G
  hgvsp: ENSP00000380998.3:p.Asn41Ser
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000551981
  gene symbol: CHMP1A
  hgvsc: ENST00000551981.1:n.139A>G
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000447899
  ensembl transcript: ENST00000549328
  gene symbol: CHMP1A
  hgvsc: ENST00000549328.1:c.122A>G
  hgvsp: ENSP00000447899.1:p.Asn41Ser
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000548650
  gene symbol: CHMP1A
  hgvsc: ENST00000548650.1:n.59A>G
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000253475
  ensembl transcript: ENST00000253475
  gene symbol: CHMP1A
  hgvsc: ENST00000253475.5:c.102A>G
  hgvsp: ENST00000253475.5:c.102A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000449243
  ensembl transcript: ENST00000550102
  gene symbol: CHMP1A
  hgvsc: ENST00000550102.1:c.122A>G
  hgvsp: ENSP00000449243.1:p.Asn41Ser
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000547614
  gene symbol: CHMP1A
  hgvsc: ENST00000547614.1:n.235A>G
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000442120
  ensembl transcript: ENST00000535997
  gene symbol: CHMP1A
  hgvsc: ENST00000535997.2:c.-71A>G
  variant of: http://identifiers.org/hgnc/8740
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10575
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4144
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1930
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26419
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13504
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asn41Ser
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

16-89715897-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89715897
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89715897
    reference: chr 16
allele count: 1
allele frequency: 8.370302167908262e-6
allele num: 119470
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000442120
  ensembl transcript: ENST00000535997
  gene symbol: CHMP1A
  hgvsc: ENST00000535997.2:c.-79G>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000253475
  ensembl transcript: ENST00000253475
  gene symbol: CHMP1A
  hgvsc: ENST00000253475.5:c.94G>A
  hgvsp: ENSP00000253475.5:p.Ala32Thr
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000549139
  gene symbol: CHMP1A
  hgvsc: ENST00000549139.1:n.105G>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000550872
  gene symbol: CHMP1A
  hgvsc: ENST00000550872.1:n.223G>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000447899
  ensembl transcript: ENST00000549328
  gene symbol: CHMP1A
  hgvsc: ENST00000549328.1:c.114G>A
  hgvsp: ENST00000549328.1:c.114G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000449243
  ensembl transcript: ENST00000550102
  gene symbol: CHMP1A
  hgvsc: ENST00000550102.1:c.114G>A
  hgvsp: ENST00000550102.1:c.114G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000551981
  gene symbol: CHMP1A
  hgvsc: ENST00000551981.1:n.131G>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000548650
  gene symbol: CHMP1A
  hgvsc: ENST00000548650.1:n.51G>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000380998
  ensembl transcript: ENST00000397901
  gene symbol: CHMP1A
  hgvsc: ENST00000397901.3:c.114G>A
  hgvsp: ENST00000397901.3:c.114G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000547614
  gene symbol: CHMP1A
  hgvsc: ENST00000547614.1:n.227G>A
  variant of: http://identifiers.org/hgnc/8740
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10645
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26179
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13276
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1917
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4099
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2399
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala32Thr
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP

16-89715900-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89715900
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89715900
    reference: chr 16
allele count: 1
allele frequency: 8.384056877441857e-6
allele num: 119274
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000447899
  ensembl transcript: ENST00000549328
  gene symbol: CHMP1A
  hgvsc: ENST00000549328.1:c.111T>C
  hgvsp: ENST00000549328.1:c.111T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000551981
  gene symbol: CHMP1A
  hgvsc: ENST00000551981.1:n.128T>C
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000548650
  gene symbol: CHMP1A
  hgvsc: ENST00000548650.1:n.48T>C
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000549139
  gene symbol: CHMP1A
  hgvsc: ENST00000549139.1:n.102T>C
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000442120
  ensembl transcript: ENST00000535997
  gene symbol: CHMP1A
  hgvsc: ENST00000535997.2:c.-82T>C
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000380998
  ensembl transcript: ENST00000397901
  gene symbol: CHMP1A
  hgvsc: ENST00000397901.3:c.111T>C
  hgvsp: ENST00000397901.3:c.111T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000449243
  ensembl transcript: ENST00000550102
  gene symbol: CHMP1A
  hgvsc: ENST00000550102.1:c.111T>C
  hgvsp: ENST00000550102.1:c.111T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000253475
  ensembl transcript: ENST00000253475
  gene symbol: CHMP1A
  hgvsc: ENST00000253475.5:c.91T>C
  hgvsp: ENSP00000253475.5:p.Ser31Pro
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000550872
  gene symbol: CHMP1A
  hgvsc: ENST00000550872.1:n.220T>C
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000547614
  gene symbol: CHMP1A
  hgvsc: ENST00000547614.1:n.224T>C
  variant of: http://identifiers.org/hgnc/8740
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10666
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1913
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13083
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4057
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25944
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3605
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser31Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum

16-89715903-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89715903
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89715903
    reference: chr 16
allele count: 3
allele frequency: 2.517031915964694e-5
allele num: 119188
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000547614
  gene symbol: CHMP1A
  hgvsc: ENST00000547614.1:n.221C>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000551981
  gene symbol: CHMP1A
  hgvsc: ENST00000551981.1:n.125C>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000442120
  ensembl transcript: ENST00000535997
  gene symbol: CHMP1A
  hgvsc: ENST00000535997.2:c.-85C>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000447899
  ensembl transcript: ENST00000549328
  gene symbol: CHMP1A
  hgvsc: ENST00000549328.1:c.108C>A
  hgvsp: ENST00000549328.1:c.108C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000550872
  gene symbol: CHMP1A
  hgvsc: ENST00000550872.1:n.217C>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000548650
  gene symbol: CHMP1A
  hgvsc: ENST00000548650.1:n.45C>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000253475
  ensembl transcript: ENST00000253475
  gene symbol: CHMP1A
  hgvsc: ENST00000253475.5:c.88C>A
  hgvsp: ENSP00000253475.5:p.Pro30Thr
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000380998
  ensembl transcript: ENST00000397901
  gene symbol: CHMP1A
  hgvsc: ENST00000397901.3:c.108C>A
  hgvsp: ENST00000397901.3:c.108C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000449243
  ensembl transcript: ENST00000550102
  gene symbol: CHMP1A
  hgvsc: ENST00000550102.1:c.108C>A
  hgvsp: ENST00000550102.1:c.108C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000549139
  gene symbol: CHMP1A
  hgvsc: ENST00000549139.1:n.99C>A
  variant of: http://identifiers.org/hgnc/8740
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10708
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4043
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1910
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25827
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13010
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro30Thr
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum

16-89715905-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89715905
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89715905
    reference: chr 16
allele count: 1
allele frequency: 8.402514032198434e-6
allele num: 119012
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000380998
  ensembl transcript: ENST00000397901
  gene symbol: CHMP1A
  hgvsc: ENST00000397901.3:c.106G>C
  hgvsp: ENSP00000380998.3:p.Ala36Pro
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000253475
  ensembl transcript: ENST00000253475
  gene symbol: CHMP1A
  hgvsc: ENST00000253475.5:c.86G>C
  hgvsp: ENSP00000253475.5:p.Gly29Ala
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000449243
  ensembl transcript: ENST00000550102
  gene symbol: CHMP1A
  hgvsc: ENST00000550102.1:c.106G>C
  hgvsp: ENSP00000449243.1:p.Ala36Pro
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000447899
  ensembl transcript: ENST00000549328
  gene symbol: CHMP1A
  hgvsc: ENST00000549328.1:c.106G>C
  hgvsp: ENSP00000447899.1:p.Ala36Pro
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000549139
  gene symbol: CHMP1A
  hgvsc: ENST00000549139.1:n.97G>C
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000548650
  gene symbol: CHMP1A
  hgvsc: ENST00000548650.1:n.43G>C
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000550872
  gene symbol: CHMP1A
  hgvsc: ENST00000550872.1:n.215G>C
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000547614
  gene symbol: CHMP1A
  hgvsc: ENST00000547614.1:n.219G>C
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000551981
  gene symbol: CHMP1A
  hgvsc: ENST00000551981.1:n.123G>C
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000442120
  ensembl transcript: ENST00000535997
  gene symbol: CHMP1A
  hgvsc: ENST00000535997.2:c.-87G>C
  variant of: http://identifiers.org/hgnc/8740
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1902
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10711
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4019
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12848
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25479
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala36Pro
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: C
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: BaseQRankSum

16-89715907-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89715907
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89715907
    reference: chr 16
allele count: 1
allele frequency: 8.418925745074929e-6
allele num: 118780
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000550872
  gene symbol: CHMP1A
  hgvsc: ENST00000550872.1:n.215-2A>G
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000449243
  ensembl transcript: ENST00000550102
  gene symbol: CHMP1A
  hgvsc: ENST00000550102.1:c.106-2A>G
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000447899
  ensembl transcript: ENST00000549328
  gene symbol: CHMP1A
  hgvsc: ENST00000549328.1:c.106-2A>G
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000380998
  ensembl transcript: ENST00000397901
  gene symbol: CHMP1A
  hgvsc: ENST00000397901.3:c.106-2A>G
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000253475
  ensembl transcript: ENST00000253475
  gene symbol: CHMP1A
  hgvsc: ENST00000253475.5:c.86-2A>G
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000547614
  gene symbol: CHMP1A
  hgvsc: ENST00000547614.1:n.219-2A>G
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000549139
  gene symbol: CHMP1A
  hgvsc: ENST00000549139.1:n.95A>G
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000551981
  gene symbol: CHMP1A
  hgvsc: ENST00000551981.1:n.123-2A>G
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000442120
  ensembl transcript: ENST00000535997
  gene symbol: CHMP1A
  hgvsc: ENST00000535997.2:c.-87-2A>G
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000548650
  gene symbol: CHMP1A
  hgvsc: ENST00000548650.1:n.41A>G
  variant of: http://identifiers.org/hgnc/8740
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12570
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25049
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1668
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10851
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1884
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3968
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
hgvs: c.106-2A>G
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

16-89715908-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89715908
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89715908
    reference: chr 16
allele count: 1
allele frequency: 8.425309630128907e-6
allele num: 118690
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000449243
  ensembl transcript: ENST00000550102
  gene symbol: CHMP1A
  hgvsc: ENST00000550102.1:c.106-3C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000380998
  ensembl transcript: ENST00000397901
  gene symbol: CHMP1A
  hgvsc: ENST00000397901.3:c.106-3C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000442120
  ensembl transcript: ENST00000535997
  gene symbol: CHMP1A
  hgvsc: ENST00000535997.2:c.-87-3C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000551981
  gene symbol: CHMP1A
  hgvsc: ENST00000551981.1:n.123-3C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000549139
  gene symbol: CHMP1A
  hgvsc: ENST00000549139.1:n.94C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000547614
  gene symbol: CHMP1A
  hgvsc: ENST00000547614.1:n.219-3C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000548650
  gene symbol: CHMP1A
  hgvsc: ENST00000548650.1:n.40C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000550872
  gene symbol: CHMP1A
  hgvsc: ENST00000550872.1:n.215-3C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000447899
  ensembl transcript: ENST00000549328
  gene symbol: CHMP1A
  hgvsc: ENST00000549328.1:c.106-3C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000253475
  ensembl transcript: ENST00000253475
  gene symbol: CHMP1A
  hgvsc: ENST00000253475.5:c.86-3C>T
  variant of: http://identifiers.org/hgnc/8740
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3924
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24818
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1932
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10949
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12313
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1877
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2338
  bin: 8.25e1
  variant carriers: 0
hgvs: c.106-3C>T
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/16-89715910-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89715910
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89715910
    reference: chr 16
allele count: 1
allele frequency: 8.430423713095819e-6
allele num: 118618
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000380998
  ensembl transcript: ENST00000397901
  gene symbol: CHMP1A
  hgvsc: ENST00000397901.3:c.106-5T>G
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000442120
  ensembl transcript: ENST00000535997
  gene symbol: CHMP1A
  hgvsc: ENST00000535997.2:c.-87-5T>G
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000447899
  ensembl transcript: ENST00000549328
  gene symbol: CHMP1A
  hgvsc: ENST00000549328.1:c.106-5T>G
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000551981
  gene symbol: CHMP1A
  hgvsc: ENST00000551981.1:n.123-5T>G
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000550872
  gene symbol: CHMP1A
  hgvsc: ENST00000550872.1:n.215-5T>G
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000549139
  gene symbol: CHMP1A
  hgvsc: ENST00000549139.1:n.92T>G
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000253475
  ensembl transcript: ENST00000253475
  gene symbol: CHMP1A
  hgvsc: ENST00000253475.5:c.86-5T>G
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000449243
  ensembl transcript: ENST00000550102
  gene symbol: CHMP1A
  hgvsc: ENST00000550102.1:c.106-5T>G
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000547614
  gene symbol: CHMP1A
  hgvsc: ENST00000547614.1:n.219-5T>G
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000548650
  gene symbol: CHMP1A
  hgvsc: ENST00000548650.1:n.38T>G
  variant of: http://identifiers.org/hgnc/8740
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24697
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11013
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1866
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2110
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3887
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12122
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1816
  bin: 2.25e1
  variant carriers: 0
hgvs: c.106-5T>G
num of homozygotes: 0
population: Other
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

16-89715912-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89715912
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89715912
    reference: chr 16
allele count: 3
allele frequency: 2.532457665749354e-5
allele num: 118462
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000447899
  ensembl transcript: ENST00000549328
  gene symbol: CHMP1A
  hgvsc: ENST00000549328.1:c.106-7G>C
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000547614
  gene symbol: CHMP1A
  hgvsc: ENST00000547614.1:n.219-7G>C
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000549139
  gene symbol: CHMP1A
  hgvsc: ENST00000549139.1:n.90G>C
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000449243
  ensembl transcript: ENST00000550102
  gene symbol: CHMP1A
  hgvsc: ENST00000550102.1:c.106-7G>C
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000442120
  ensembl transcript: ENST00000535997
  gene symbol: CHMP1A
  hgvsc: ENST00000535997.2:c.-87-7G>C
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000380998
  ensembl transcript: ENST00000397901
  gene symbol: CHMP1A
  hgvsc: ENST00000397901.3:c.106-7G>C
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000548650
  gene symbol: CHMP1A
  hgvsc: ENST00000548650.1:n.36G>C
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000550872
  gene symbol: CHMP1A
  hgvsc: ENST00000550872.1:n.215-7G>C
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000551981
  gene symbol: CHMP1A
  hgvsc: ENST00000551981.1:n.123-7G>C
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000253475
  ensembl transcript: ENST00000253475
  gene symbol: CHMP1A
  hgvsc: ENST00000253475.5:c.86-7G>C
  variant of: http://identifiers.org/hgnc/8740
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11861
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1857
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11130
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2425
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3850
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24364
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
hgvs: c.106-7G>C
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

16-89715915-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89715915
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89715915
    reference: chr 16
allele count: 3
allele frequency: 2.541037759821111e-5
allele num: 118062
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000549139
  gene symbol: CHMP1A
  hgvsc: ENST00000549139.1:n.87C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000550872
  gene symbol: CHMP1A
  hgvsc: ENST00000550872.1:n.215-10C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000253475
  ensembl transcript: ENST00000253475
  gene symbol: CHMP1A
  hgvsc: ENST00000253475.5:c.86-10C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000442120
  ensembl transcript: ENST00000535997
  gene symbol: CHMP1A
  hgvsc: ENST00000535997.2:c.-87-10C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000548650
  gene symbol: CHMP1A
  hgvsc: ENST00000548650.1:n.33C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000380998
  ensembl transcript: ENST00000397901
  gene symbol: CHMP1A
  hgvsc: ENST00000397901.3:c.106-10C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000547614
  gene symbol: CHMP1A
  hgvsc: ENST00000547614.1:n.219-10C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000447899
  ensembl transcript: ENST00000549328
  gene symbol: CHMP1A
  hgvsc: ENST00000549328.1:c.106-10C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000551981
  gene symbol: CHMP1A
  hgvsc: ENST00000551981.1:n.123-10C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000449243
  ensembl transcript: ENST00000550102
  gene symbol: CHMP1A
  hgvsc: ENST00000550102.1:c.106-10C>T
  variant of: http://identifiers.org/hgnc/8740
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11314
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23414
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3694
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1849
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3473
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11042
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2285
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD

http://identifiers.org/exac.variant/16-89715916-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89715916
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89715916
    reference: chr 16
allele count: 4
allele frequency: 3.392245327182062e-5
allele num: 117916
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000253475
  ensembl transcript: ENST00000253475
  gene symbol: CHMP1A
  hgvsc: ENST00000253475.5:c.86-11G>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000449243
  ensembl transcript: ENST00000550102
  gene symbol: CHMP1A
  hgvsc: ENST00000550102.1:c.106-11G>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000551981
  gene symbol: CHMP1A
  hgvsc: ENST00000551981.1:n.123-11G>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000549139
  gene symbol: CHMP1A
  hgvsc: ENST00000549139.1:n.86G>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000447899
  ensembl transcript: ENST00000549328
  gene symbol: CHMP1A
  hgvsc: ENST00000549328.1:c.106-11G>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000548650
  gene symbol: CHMP1A
  hgvsc: ENST00000548650.1:n.32G>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000547614
  gene symbol: CHMP1A
  hgvsc: ENST00000547614.1:n.219-11G>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000380998
  ensembl transcript: ENST00000397901
  gene symbol: CHMP1A
  hgvsc: ENST00000397901.3:c.106-11G>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000550872
  gene symbol: CHMP1A
  hgvsc: ENST00000550872.1:n.215-11G>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000442120
  ensembl transcript: ENST00000535997
  gene symbol: CHMP1A
  hgvsc: ENST00000535997.2:c.-87-11G>T
  variant of: http://identifiers.org/hgnc/8740
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1770
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23428
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3608
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1744
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3499
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11434
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10880
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3087
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum

16-89715916-C-CG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89715916
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89715917
    reference: chr 16
allele count: 1
allele frequency: 8.480613317955154e-6
allele num: 117916
alternate allele: CG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000449243
  ensembl transcript: ENST00000550102
  gene symbol: CHMP1A
  hgvsc: ENST00000550102.1:c.106-12dupC
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000380998
  ensembl transcript: ENST00000397901
  gene symbol: CHMP1A
  hgvsc: ENST00000397901.3:c.106-12dupC
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000447899
  ensembl transcript: ENST00000549328
  gene symbol: CHMP1A
  hgvsc: ENST00000549328.1:c.106-12dupC
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000253475
  ensembl transcript: ENST00000253475
  gene symbol: CHMP1A
  hgvsc: ENST00000253475.5:c.86-12dupC
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000551981
  gene symbol: CHMP1A
  hgvsc: ENST00000551981.1:n.123-12dupC
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000548650
  gene symbol: CHMP1A
  hgvsc: ENST00000548650.1:n.31dupC
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000547614
  gene symbol: CHMP1A
  hgvsc: ENST00000547614.1:n.219-12dupC
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000442120
  ensembl transcript: ENST00000535997
  gene symbol: CHMP1A
  hgvsc: ENST00000535997.2:c.-87-12dupC
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000549139
  gene symbol: CHMP1A
  hgvsc: ENST00000549139.1:n.85dupC
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000550872
  gene symbol: CHMP1A
  hgvsc: ENST00000550872.1:n.215-12dupC
  variant of: http://identifiers.org/hgnc/8740
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10880
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1744
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3499
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11434
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1770
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23428
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3608
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2545
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 873
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1021
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

16-89715916-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89715916
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89715916
    reference: chr 16
allele count: 5206
allele frequency: 4.415007293327453e-2
allele num: 117916
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000447899
  ensembl transcript: ENST00000549328
  gene symbol: CHMP1A
  hgvsc: ENST00000549328.1:c.106-11G>C
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000449243
  ensembl transcript: ENST00000550102
  gene symbol: CHMP1A
  hgvsc: ENST00000550102.1:c.106-11G>C
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000551981
  gene symbol: CHMP1A
  hgvsc: ENST00000551981.1:n.123-11G>C
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000253475
  ensembl transcript: ENST00000253475
  gene symbol: CHMP1A
  hgvsc: ENST00000253475.5:c.86-11G>C
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000550872
  gene symbol: CHMP1A
  hgvsc: ENST00000550872.1:n.215-11G>C
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000548650
  gene symbol: CHMP1A
  hgvsc: ENST00000548650.1:n.32G>C
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000442120
  ensembl transcript: ENST00000535997
  gene symbol: CHMP1A
  hgvsc: ENST00000535997.2:c.-87-11G>C
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000549139
  gene symbol: CHMP1A
  hgvsc: ENST00000549139.1:n.86G>C
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000380998
  ensembl transcript: ENST00000397901
  gene symbol: CHMP1A
  hgvsc: ENST00000397901.3:c.106-11G>C
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000547614
  gene symbol: CHMP1A
  hgvsc: ENST00000547614.1:n.219-11G>C
  variant of: http://identifiers.org/hgnc/8740
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 3499
  bin: 1.25e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 1770
  bin: 4.25e1
  variant carriers: 363
genotype depth: GenotypeDepth
  all individuals: 23428
  bin: 2.75e1
  variant carriers: 761
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 11434
  bin: 2.25e1
  variant carriers: 511
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 5.25e1
  variant carriers: 165
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 4.75e1
  variant carriers: 241
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.25e1
  variant carriers: 64
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 5.75e1
  variant carriers: 95
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 9.75e1
  variant carriers: 219
genotype depth: GenotypeDepth
  all individuals: 3608
  bin: 3.75e1
  variant carriers: 560
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 1744
  bin: 1.75e1
  variant carriers: 237
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 10880
  bin: 3.25e1
  variant carriers: 715
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 5.25e1
  variant carriers: 53
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 1.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 1021
  bin: 2.75e1
  variant carriers: 23
num of homozygotes: 1111
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

16-89715916-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89715916
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89715916
    reference: chr 16
allele count: 9
allele frequency: 7.63255198615964e-5
allele num: 117916
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000547614
  gene symbol: CHMP1A
  hgvsc: ENST00000547614.1:n.219-11G>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000549139
  gene symbol: CHMP1A
  hgvsc: ENST00000549139.1:n.86G>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000380998
  ensembl transcript: ENST00000397901
  gene symbol: CHMP1A
  hgvsc: ENST00000397901.3:c.106-11G>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000449243
  ensembl transcript: ENST00000550102
  gene symbol: CHMP1A
  hgvsc: ENST00000550102.1:c.106-11G>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000551981
  gene symbol: CHMP1A
  hgvsc: ENST00000551981.1:n.123-11G>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000550872
  gene symbol: CHMP1A
  hgvsc: ENST00000550872.1:n.215-11G>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000447899
  ensembl transcript: ENST00000549328
  gene symbol: CHMP1A
  hgvsc: ENST00000549328.1:c.106-11G>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000548650
  gene symbol: CHMP1A
  hgvsc: ENST00000548650.1:n.32G>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000253475
  ensembl transcript: ENST00000253475
  gene symbol: CHMP1A
  hgvsc: ENST00000253475.5:c.86-11G>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000442120
  ensembl transcript: ENST00000535997
  gene symbol: CHMP1A
  hgvsc: ENST00000535997.2:c.-87-11G>A
  variant of: http://identifiers.org/hgnc/8740
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1744
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3499
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11434
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23428
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10880
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1770
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3608
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2750
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff

16-89715916-CG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89715916
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89715915
    reference: chr 16
allele count: 1
allele frequency: 8.480613317955154e-6
allele num: 117916
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000548650
  gene symbol: CHMP1A
  hgvsc: ENST00000548650.1:n.31delC
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000442120
  ensembl transcript: ENST00000535997
  gene symbol: CHMP1A
  hgvsc: ENST00000535997.2:c.-87-12delC
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000253475
  ensembl transcript: ENST00000253475
  gene symbol: CHMP1A
  hgvsc: ENST00000253475.5:c.86-12delC
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000447899
  ensembl transcript: ENST00000549328
  gene symbol: CHMP1A
  hgvsc: ENST00000549328.1:c.106-12delC
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000549139
  gene symbol: CHMP1A
  hgvsc: ENST00000549139.1:n.85delC
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000449243
  ensembl transcript: ENST00000550102
  gene symbol: CHMP1A
  hgvsc: ENST00000550102.1:c.106-12delC
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000551981
  gene symbol: CHMP1A
  hgvsc: ENST00000551981.1:n.123-12delC
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000547614
  gene symbol: CHMP1A
  hgvsc: ENST00000547614.1:n.219-12delC
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000550872
  gene symbol: CHMP1A
  hgvsc: ENST00000550872.1:n.215-12delC
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000380998
  ensembl transcript: ENST00000397901
  gene symbol: CHMP1A
  hgvsc: ENST00000397901.3:c.106-12delC
  variant of: http://identifiers.org/hgnc/8740
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1770
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11434
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1744
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3608
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10880
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23428
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3499
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8322
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2545
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27837
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: CG
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

16-89715917-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89715917
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89715917
    reference: chr 16
allele count: 6
allele frequency: 5.099005693889691e-5
allele num: 117670
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000547614
  gene symbol: CHMP1A
  hgvsc: ENST00000547614.1:n.219-12C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000548650
  gene symbol: CHMP1A
  hgvsc: ENST00000548650.1:n.31C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000380998
  ensembl transcript: ENST00000397901
  gene symbol: CHMP1A
  hgvsc: ENST00000397901.3:c.106-12C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000549139
  gene symbol: CHMP1A
  hgvsc: ENST00000549139.1:n.85C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000253475
  ensembl transcript: ENST00000253475
  gene symbol: CHMP1A
  hgvsc: ENST00000253475.5:c.86-12C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000449243
  ensembl transcript: ENST00000550102
  gene symbol: CHMP1A
  hgvsc: ENST00000550102.1:c.106-12C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000447899
  ensembl transcript: ENST00000549328
  gene symbol: CHMP1A
  hgvsc: ENST00000549328.1:c.106-12C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000550872
  gene symbol: CHMP1A
  hgvsc: ENST00000550872.1:n.215-12C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000442120
  ensembl transcript: ENST00000535997
  gene symbol: CHMP1A
  hgvsc: ENST00000535997.2:c.-87-12C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000551981
  gene symbol: CHMP1A
  hgvsc: ENST00000551981.1:n.123-12C>T
  variant of: http://identifiers.org/hgnc/8740
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10515
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3148
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11763
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4006
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1676
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24301
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2965
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3251
  bin: 9.75e1
  variant carriers: 6
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

16-89715917-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89715917
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89715917
    reference: chr 16
allele count: 1
allele frequency: 8.498342823149486e-6
allele num: 117670
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000549139
  gene symbol: CHMP1A
  hgvsc: ENST00000549139.1:n.85C>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000447899
  ensembl transcript: ENST00000549328
  gene symbol: CHMP1A
  hgvsc: ENST00000549328.1:c.106-12C>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000442120
  ensembl transcript: ENST00000535997
  gene symbol: CHMP1A
  hgvsc: ENST00000535997.2:c.-87-12C>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000551981
  gene symbol: CHMP1A
  hgvsc: ENST00000551981.1:n.123-12C>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000253475
  ensembl transcript: ENST00000253475
  gene symbol: CHMP1A
  hgvsc: ENST00000253475.5:c.86-12C>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000548650
  gene symbol: CHMP1A
  hgvsc: ENST00000548650.1:n.31C>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000547614
  gene symbol: CHMP1A
  hgvsc: ENST00000547614.1:n.219-12C>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000449243
  ensembl transcript: ENST00000550102
  gene symbol: CHMP1A
  hgvsc: ENST00000550102.1:c.106-12C>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000380998
  ensembl transcript: ENST00000397901
  gene symbol: CHMP1A
  hgvsc: ENST00000397901.3:c.106-12C>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000550872
  gene symbol: CHMP1A
  hgvsc: ENST00000550872.1:n.215-12C>A
  variant of: http://identifiers.org/hgnc/8740
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1676
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10515
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24301
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3148
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11763
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4006
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2965
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8699
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

16-89715926-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89715926
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89715926
    reference: chr 16
allele count: 2
allele frequency: 1.706397283415525e-5
allele num: 117206
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000551981
  gene symbol: CHMP1A
  hgvsc: ENST00000551981.1:n.123-21G>C
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000447899
  ensembl transcript: ENST00000549328
  gene symbol: CHMP1A
  hgvsc: ENST00000549328.1:c.106-21G>C
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000548650
  gene symbol: CHMP1A
  hgvsc: ENST00000548650.1:n.22G>C
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000549139
  gene symbol: CHMP1A
  hgvsc: ENST00000549139.1:n.76G>C
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000449243
  ensembl transcript: ENST00000550102
  gene symbol: CHMP1A
  hgvsc: ENST00000550102.1:c.106-21G>C
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000547614
  gene symbol: CHMP1A
  hgvsc: ENST00000547614.1:n.219-21G>C
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000442120
  ensembl transcript: ENST00000535997
  gene symbol: CHMP1A
  hgvsc: ENST00000535997.2:c.-87-21G>C
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000550872
  gene symbol: CHMP1A
  hgvsc: ENST00000550872.1:n.215-21G>C
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000253475
  ensembl transcript: ENST00000253475
  gene symbol: CHMP1A
  hgvsc: ENST00000253475.5:c.86-21G>C
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000380998
  ensembl transcript: ENST00000397901
  gene symbol: CHMP1A
  hgvsc: ENST00000397901.3:c.106-21G>C
  variant of: http://identifiers.org/hgnc/8740
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8988
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6631
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11758
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2979
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21239
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3574
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1921
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

16-89715930-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89715930
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89715929
    reference: chr 16
allele count: 1
allele frequency: 8.55431993156544e-6
allele num: 116900
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000550872
  gene symbol: CHMP1A
  hgvsc: ENST00000550872.1:n.215-26delC
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000449243
  ensembl transcript: ENST00000550102
  gene symbol: CHMP1A
  hgvsc: ENST00000550102.1:c.106-26delC
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000549139
  gene symbol: CHMP1A
  hgvsc: ENST00000549139.1:n.71delC
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000547614
  gene symbol: CHMP1A
  hgvsc: ENST00000547614.1:n.219-26delC
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000253475
  ensembl transcript: ENST00000253475
  gene symbol: CHMP1A
  hgvsc: ENST00000253475.5:c.86-26delC
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000548650
  gene symbol: CHMP1A
  hgvsc: ENST00000548650.1:n.17delC
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000447899
  ensembl transcript: ENST00000549328
  gene symbol: CHMP1A
  hgvsc: ENST00000549328.1:c.106-26delC
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000551981
  gene symbol: CHMP1A
  hgvsc: ENST00000551981.1:n.123-26delC
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000380998
  ensembl transcript: ENST00000397901
  gene symbol: CHMP1A
  hgvsc: ENST00000397901.3:c.106-26delC
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000442120
  ensembl transcript: ENST00000535997
  gene symbol: CHMP1A
  hgvsc: ENST00000535997.2:c.-87-26delC
  variant of: http://identifiers.org/hgnc/8740
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8207
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11559
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6461
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7816
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2884
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18142
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 917
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2385
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2772
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: TG
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum

16-89715932-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89715932
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89715932
    reference: chr 16
allele count: 1
allele frequency: 8.561204047737274e-6
allele num: 116806
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000549139
  gene symbol: CHMP1A
  hgvsc: ENST00000549139.1:n.70C>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000551981
  gene symbol: CHMP1A
  hgvsc: ENST00000551981.1:n.123-27C>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000253475
  ensembl transcript: ENST00000253475
  gene symbol: CHMP1A
  hgvsc: ENST00000253475.5:c.86-27C>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000547614
  gene symbol: CHMP1A
  hgvsc: ENST00000547614.1:n.219-27C>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000442120
  ensembl transcript: ENST00000535997
  gene symbol: CHMP1A
  hgvsc: ENST00000535997.2:c.-87-27C>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000447899
  ensembl transcript: ENST00000549328
  gene symbol: CHMP1A
  hgvsc: ENST00000549328.1:c.106-27C>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000449243
  ensembl transcript: ENST00000550102
  gene symbol: CHMP1A
  hgvsc: ENST00000550102.1:c.106-27C>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000550872
  gene symbol: CHMP1A
  hgvsc: ENST00000550872.1:n.215-27C>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000548650
  gene symbol: CHMP1A
  hgvsc: ENST00000548650.1:n.16C>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000380998
  ensembl transcript: ENST00000397901
  gene symbol: CHMP1A
  hgvsc: ENST00000397901.3:c.106-27C>A
  variant of: http://identifiers.org/hgnc/8740
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17940
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11938
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2857
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8226
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6447
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7649
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2332
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1069
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1027
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

16-89715940-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89715940
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89715940
    reference: chr 16
allele count: 1
allele frequency: 8.595200440074262e-6
allele num: 116344
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000551981
  gene symbol: CHMP1A
  hgvsc: ENST00000551981.1:n.123-35A>G
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000449243
  ensembl transcript: ENST00000550102
  gene symbol: CHMP1A
  hgvsc: ENST00000550102.1:c.106-35A>G
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000253475
  ensembl transcript: ENST00000253475
  gene symbol: CHMP1A
  hgvsc: ENST00000253475.5:c.86-35A>G
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000447899
  ensembl transcript: ENST00000549328
  gene symbol: CHMP1A
  hgvsc: ENST00000549328.1:c.106-35A>G
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000380998
  ensembl transcript: ENST00000397901
  gene symbol: CHMP1A
  hgvsc: ENST00000397901.3:c.106-35A>G
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000550872
  gene symbol: CHMP1A
  hgvsc: ENST00000550872.1:n.215-35A>G
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000547614
  gene symbol: CHMP1A
  hgvsc: ENST00000547614.1:n.219-35A>G
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000548650
  gene symbol: CHMP1A
  hgvsc: ENST00000548650.1:n.8A>G
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000549139
  gene symbol: CHMP1A
  hgvsc: ENST00000549139.1:n.62A>G
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000442120
  ensembl transcript: ENST00000535997
  gene symbol: CHMP1A
  hgvsc: ENST00000535997.2:c.-87-35A>G
  variant of: http://identifiers.org/hgnc/8740
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10479
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11756
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6859
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14167
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2797
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1728
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8806
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1019
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2208
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff

16-89715942-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89715942
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89715942
    reference: chr 16
allele count: 7
allele frequency: 6.027519933869495e-5
allele num: 116134
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000550872
  gene symbol: CHMP1A
  hgvsc: ENST00000550872.1:n.215-37C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000547614
  gene symbol: CHMP1A
  hgvsc: ENST00000547614.1:n.219-37C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000449243
  ensembl transcript: ENST00000550102
  gene symbol: CHMP1A
  hgvsc: ENST00000550102.1:c.106-37C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000442120
  ensembl transcript: ENST00000535997
  gene symbol: CHMP1A
  hgvsc: ENST00000535997.2:c.-87-37C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000551981
  gene symbol: CHMP1A
  hgvsc: ENST00000551981.1:n.123-37C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000549139
  gene symbol: CHMP1A
  hgvsc: ENST00000549139.1:n.60C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000548650
  gene symbol: CHMP1A
  hgvsc: ENST00000548650.1:n.6C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000447899
  ensembl transcript: ENST00000549328
  gene symbol: CHMP1A
  hgvsc: ENST00000549328.1:c.106-37C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000380998
  ensembl transcript: ENST00000397901
  gene symbol: CHMP1A
  hgvsc: ENST00000397901.3:c.106-37C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000253475
  ensembl transcript: ENST00000253475
  gene symbol: CHMP1A
  hgvsc: ENST00000253475.5:c.86-37C>T
  variant of: http://identifiers.org/hgnc/8740
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10349
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13161
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13097
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1814
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8794
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2778
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6598
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1072
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5217
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

16-89715944-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89715944
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89715944
    reference: chr 16
allele count: 1
allele frequency: 8.628872206402623e-6
allele num: 115890
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000550872
  gene symbol: CHMP1A
  hgvsc: ENST00000550872.1:n.215-39C>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000447899
  ensembl transcript: ENST00000549328
  gene symbol: CHMP1A
  hgvsc: ENST00000549328.1:c.106-39C>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000551981
  gene symbol: CHMP1A
  hgvsc: ENST00000551981.1:n.123-39C>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000253475
  ensembl transcript: ENST00000253475
  gene symbol: CHMP1A
  hgvsc: ENST00000253475.5:c.86-39C>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000380998
  ensembl transcript: ENST00000397901
  gene symbol: CHMP1A
  hgvsc: ENST00000397901.3:c.106-39C>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000549139
  gene symbol: CHMP1A
  hgvsc: ENST00000549139.1:n.58C>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000547614
  gene symbol: CHMP1A
  hgvsc: ENST00000547614.1:n.219-39C>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000548650
  gene symbol: CHMP1A
  hgvsc: ENST00000548650.1:n.4C>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000442120
  ensembl transcript: ENST00000535997
  gene symbol: CHMP1A
  hgvsc: ENST00000535997.2:c.-87-39C>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000449243
  ensembl transcript: ENST00000550102
  gene symbol: CHMP1A
  hgvsc: ENST00000550102.1:c.106-39C>A
  variant of: http://identifiers.org/hgnc/8740
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2771
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6513
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10533
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13055
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13076
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1843
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8802
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1857
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5372
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5345
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: QD

16-89715944-GGT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89715944
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89715942
    reference: chr 16
allele count: 1
allele frequency: 8.628872206402623e-6
allele num: 115890
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000253475
  ensembl transcript: ENST00000253475
  gene symbol: CHMP1A
  hgvsc: ENST00000253475.5:c.86-41_86-40delAC
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000549139
  gene symbol: CHMP1A
  hgvsc: ENST00000549139.1:n.56_57delAC
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000447899
  ensembl transcript: ENST00000549328
  gene symbol: CHMP1A
  hgvsc: ENST00000549328.1:c.106-41_106-40delAC
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000547614
  gene symbol: CHMP1A
  hgvsc: ENST00000547614.1:n.219-41_219-40delAC
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000551981
  gene symbol: CHMP1A
  hgvsc: ENST00000551981.1:n.123-41_123-40delAC
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000380998
  ensembl transcript: ENST00000397901
  gene symbol: CHMP1A
  hgvsc: ENST00000397901.3:c.106-41_106-40delAC
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000550872
  gene symbol: CHMP1A
  hgvsc: ENST00000550872.1:n.215-41_215-40delAC
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000442120
  ensembl transcript: ENST00000535997
  gene symbol: CHMP1A
  hgvsc: ENST00000535997.2:c.-87-41_-87-40delAC
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000548650
  gene symbol: CHMP1A
  hgvsc: ENST00000548650.1:n.2_3delAC
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000449243
  ensembl transcript: ENST00000550102
  gene symbol: CHMP1A
  hgvsc: ENST00000550102.1:c.106-41_106-40delAC
  variant of: http://identifiers.org/hgnc/8740
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10533
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2771
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8802
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1843
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13055
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13076
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6513
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1015
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2583
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: GGT
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

16-89715945-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89715945
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89715945
    reference: chr 16
allele count: 6
allele frequency: 5.177948841865442e-5
allele num: 115876
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000549139
  gene symbol: CHMP1A
  hgvsc: ENST00000549139.1:n.57C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000547614
  gene symbol: CHMP1A
  hgvsc: ENST00000547614.1:n.219-40C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000447899
  ensembl transcript: ENST00000549328
  gene symbol: CHMP1A
  hgvsc: ENST00000549328.1:c.106-40C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000442120
  ensembl transcript: ENST00000535997
  gene symbol: CHMP1A
  hgvsc: ENST00000535997.2:c.-87-40C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000380998
  ensembl transcript: ENST00000397901
  gene symbol: CHMP1A
  hgvsc: ENST00000397901.3:c.106-40C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000548650
  gene symbol: CHMP1A
  hgvsc: ENST00000548650.1:n.3C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000550872
  gene symbol: CHMP1A
  hgvsc: ENST00000550872.1:n.215-40C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000551981
  gene symbol: CHMP1A
  hgvsc: ENST00000551981.1:n.123-40C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000253475
  ensembl transcript: ENST00000253475
  gene symbol: CHMP1A
  hgvsc: ENST00000253475.5:c.86-40C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000449243
  ensembl transcript: ENST00000550102
  gene symbol: CHMP1A
  hgvsc: ENST00000550102.1:c.106-40C>T
  variant of: http://identifiers.org/hgnc/8740
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10520
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6416
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1873
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13448
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2760
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8822
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12751
  bin: 2.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2816
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2125
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: Latino
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

16-89715947-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89715947
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89715947
    reference: chr 16
allele count: 81
allele frequency: 7.000864304235091e-4
allele num: 115700
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000253475
  ensembl transcript: ENST00000253475
  gene symbol: CHMP1A
  hgvsc: ENST00000253475.5:c.86-42C>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000447899
  ensembl transcript: ENST00000549328
  gene symbol: CHMP1A
  hgvsc: ENST00000549328.1:c.106-42C>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000548650
  gene symbol: CHMP1A
  hgvsc: ENST00000548650.1:n.1C>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000449243
  ensembl transcript: ENST00000550102
  gene symbol: CHMP1A
  hgvsc: ENST00000550102.1:c.106-42C>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000551981
  gene symbol: CHMP1A
  hgvsc: ENST00000551981.1:n.123-42C>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000380998
  ensembl transcript: ENST00000397901
  gene symbol: CHMP1A
  hgvsc: ENST00000397901.3:c.106-42C>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000550872
  gene symbol: CHMP1A
  hgvsc: ENST00000550872.1:n.215-42C>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000549139
  gene symbol: CHMP1A
  hgvsc: ENST00000549139.1:n.55C>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000547614
  gene symbol: CHMP1A
  hgvsc: ENST00000547614.1:n.219-42C>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000442120
  ensembl transcript: ENST00000535997
  gene symbol: CHMP1A
  hgvsc: ENST00000535997.2:c.-87-42C>A
  variant of: http://identifiers.org/hgnc/8740
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1918
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13525
  bin: 1.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 2751
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 11018
  bin: 2.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 6313
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12219
  bin: 2.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 8841
  bin: 1.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5586
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 795
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 1
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: FS

16-89715952-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89715952
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89715952
    reference: chr 16
allele count: 1
allele frequency: 8.728593125360055e-6
allele num: 114566
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000551981
  gene symbol: CHMP1A
  hgvsc: ENST00000551981.1:n.123-47A>G
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000449243
  ensembl transcript: ENST00000550102
  gene symbol: CHMP1A
  hgvsc: ENST00000550102.1:c.106-47A>G
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000549139
  gene symbol: CHMP1A
  hgvsc: ENST00000549139.1:n.50A>G
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000547614
  gene symbol: CHMP1A
  hgvsc: ENST00000547614.1:n.219-47A>G
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000380998
  ensembl transcript: ENST00000397901
  gene symbol: CHMP1A
  hgvsc: ENST00000397901.3:c.106-47A>G
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000447899
  ensembl transcript: ENST00000549328
  gene symbol: CHMP1A
  hgvsc: ENST00000549328.1:c.106-47A>G
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000550872
  gene symbol: CHMP1A
  hgvsc: ENST00000550872.1:n.215-47A>G
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000253475
  ensembl transcript: ENST00000253475
  gene symbol: CHMP1A
  hgvsc: ENST00000253475.5:c.86-47A>G
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000442120
  ensembl transcript: ENST00000535997
  gene symbol: CHMP1A
  hgvsc: ENST00000535997.2:c.-87-47A>G
  variant of: http://identifiers.org/hgnc/8740
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13693
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2705
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2217
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9874
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5718
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8716
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13666
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4669
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5927
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3936
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5493
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 923
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: African
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/16-89715954-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89715954
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89715954
    reference: chr 16
allele count: 1
allele frequency: 8.80312687066446e-6
allele num: 113596
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000547614
  gene symbol: CHMP1A
  hgvsc: ENST00000547614.1:n.219-49G>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000550872
  gene symbol: CHMP1A
  hgvsc: ENST00000550872.1:n.215-49G>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000380998
  ensembl transcript: ENST00000397901
  gene symbol: CHMP1A
  hgvsc: ENST00000397901.3:c.106-49G>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000551981
  gene symbol: CHMP1A
  hgvsc: ENST00000551981.1:n.123-49G>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000549139
  gene symbol: CHMP1A
  hgvsc: ENST00000549139.1:n.48G>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000442120
  ensembl transcript: ENST00000535997
  gene symbol: CHMP1A
  hgvsc: ENST00000535997.2:c.-87-49G>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000449243
  ensembl transcript: ENST00000550102
  gene symbol: CHMP1A
  hgvsc: ENST00000550102.1:c.106-49G>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000253475
  ensembl transcript: ENST00000253475
  gene symbol: CHMP1A
  hgvsc: ENST00000253475.5:c.86-49G>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000447899
  ensembl transcript: ENST00000549328
  gene symbol: CHMP1A
  hgvsc: ENST00000549328.1:c.106-49G>T
  variant of: http://identifiers.org/hgnc/8740
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2261
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13921
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13698
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5591
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9693
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2687
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8738
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3076
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 992
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1169
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8276
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5907
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4459
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQ

16-89715954-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89715954
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89715954
    reference: chr 16
allele count: 1
allele frequency: 8.80312687066446e-6
allele num: 113596
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000550872
  gene symbol: CHMP1A
  hgvsc: ENST00000550872.1:n.215-49G>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000551981
  gene symbol: CHMP1A
  hgvsc: ENST00000551981.1:n.123-49G>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000380998
  ensembl transcript: ENST00000397901
  gene symbol: CHMP1A
  hgvsc: ENST00000397901.3:c.106-49G>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000447899
  ensembl transcript: ENST00000549328
  gene symbol: CHMP1A
  hgvsc: ENST00000549328.1:c.106-49G>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000442120
  ensembl transcript: ENST00000535997
  gene symbol: CHMP1A
  hgvsc: ENST00000535997.2:c.-87-49G>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000549139
  gene symbol: CHMP1A
  hgvsc: ENST00000549139.1:n.48G>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000449243
  ensembl transcript: ENST00000550102
  gene symbol: CHMP1A
  hgvsc: ENST00000550102.1:c.106-49G>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000547614
  gene symbol: CHMP1A
  hgvsc: ENST00000547614.1:n.219-49G>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000253475
  ensembl transcript: ENST00000253475
  gene symbol: CHMP1A
  hgvsc: ENST00000253475.5:c.86-49G>A
  variant of: http://identifiers.org/hgnc/8740
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13921
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13698
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2687
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8738
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9693
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2261
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5591
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3076
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3231
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1920
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2350
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD

16-89717930-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89717930
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89717930
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 116582
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000547614
  gene symbol: CHMP1A
  hgvsc: ENST00000547614.1:n.218+47C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000449243
  ensembl transcript: ENST00000550102
  gene symbol: CHMP1A
  hgvsc: ENST00000550102.1:c.105+47C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000253475
  ensembl transcript: ENST00000253475
  gene symbol: CHMP1A
  hgvsc: ENST00000253475.5:c.85+47C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000550872
  gene symbol: CHMP1A
  hgvsc: ENST00000550872.1:n.214+47C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000447899
  ensembl transcript: ENST00000549328
  gene symbol: CHMP1A
  hgvsc: ENST00000549328.1:c.105+47C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000380998
  ensembl transcript: ENST00000397901
  gene symbol: CHMP1A
  hgvsc: ENST00000397901.3:c.105+47C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000551981
  gene symbol: CHMP1A
  hgvsc: ENST00000551981.1:n.122+47C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000442120
  ensembl transcript: ENST00000535997
  gene symbol: CHMP1A
  hgvsc: ENST00000535997.2:c.-88+47C>T
  variant of: http://identifiers.org/hgnc/8740
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15168
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10276
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19281
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5950
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4564
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28033
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2132
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1410
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1480
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3270
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2020
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum

16-89717936-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89717936
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89717936
    reference: chr 16
allele count: 1
allele frequency: 8.544379507160189e-6
allele num: 117036
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000442120
  ensembl transcript: ENST00000535997
  gene symbol: CHMP1A
  hgvsc: ENST00000535997.2:c.-88+41T>C
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000551981
  gene symbol: CHMP1A
  hgvsc: ENST00000551981.1:n.122+41T>C
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000380998
  ensembl transcript: ENST00000397901
  gene symbol: CHMP1A
  hgvsc: ENST00000397901.3:c.105+41T>C
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000449243
  ensembl transcript: ENST00000550102
  gene symbol: CHMP1A
  hgvsc: ENST00000550102.1:c.105+41T>C
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000547614
  gene symbol: CHMP1A
  hgvsc: ENST00000547614.1:n.218+41T>C
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000447899
  ensembl transcript: ENST00000549328
  gene symbol: CHMP1A
  hgvsc: ENST00000549328.1:c.105+41T>C
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000550872
  gene symbol: CHMP1A
  hgvsc: ENST00000550872.1:n.214+41T>C
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000253475
  ensembl transcript: ENST00000253475
  gene symbol: CHMP1A
  hgvsc: ENST00000253475.5:c.85+41T>C
  variant of: http://identifiers.org/hgnc/8740
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5472
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23247
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5924
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4729
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15924
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1654
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5611
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2275
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2628
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1975
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: East Asian
reference allele: A
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ

16-89717945-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89717945
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89717945
    reference: chr 16
allele count: 1
allele frequency: 8.512376996152406e-6
allele num: 117476
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000253475
  ensembl transcript: ENST00000253475
  gene symbol: CHMP1A
  hgvsc: ENST00000253475.5:c.85+32C>G
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000380998
  ensembl transcript: ENST00000397901
  gene symbol: CHMP1A
  hgvsc: ENST00000397901.3:c.105+32C>G
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000551981
  gene symbol: CHMP1A
  hgvsc: ENST00000551981.1:n.122+32C>G
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000442120
  ensembl transcript: ENST00000535997
  gene symbol: CHMP1A
  hgvsc: ENST00000535997.2:c.-88+32C>G
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000449243
  ensembl transcript: ENST00000550102
  gene symbol: CHMP1A
  hgvsc: ENST00000550102.1:c.105+32C>G
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000547614
  gene symbol: CHMP1A
  hgvsc: ENST00000547614.1:n.218+32C>G
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000447899
  ensembl transcript: ENST00000549328
  gene symbol: CHMP1A
  hgvsc: ENST00000549328.1:c.105+32C>G
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000550872
  gene symbol: CHMP1A
  hgvsc: ENST00000550872.1:n.214+32C>G
  variant of: http://identifiers.org/hgnc/8740
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27482
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17372
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1986
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3441
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5123
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1338
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1666
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD

http://identifiers.org/exac.variant/16-89717946-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89717946
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89717946
    reference: chr 16
allele count: 1
allele frequency: 8.507307777380771e-6
allele num: 117546
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000442120
  ensembl transcript: ENST00000535997
  gene symbol: CHMP1A
  hgvsc: ENST00000535997.2:c.-88+31T>G
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000550872
  gene symbol: CHMP1A
  hgvsc: ENST00000550872.1:n.214+31T>G
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000447899
  ensembl transcript: ENST00000549328
  gene symbol: CHMP1A
  hgvsc: ENST00000549328.1:c.105+31T>G
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000380998
  ensembl transcript: ENST00000397901
  gene symbol: CHMP1A
  hgvsc: ENST00000397901.3:c.105+31T>G
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000253475
  ensembl transcript: ENST00000253475
  gene symbol: CHMP1A
  hgvsc: ENST00000253475.5:c.85+31T>G
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000551981
  gene symbol: CHMP1A
  hgvsc: ENST00000551981.1:n.122+31T>G
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000547614
  gene symbol: CHMP1A
  hgvsc: ENST00000547614.1:n.218+31T>G
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000449243
  ensembl transcript: ENST00000550102
  gene symbol: CHMP1A
  hgvsc: ENST00000550102.1:c.105+31T>G
  variant of: http://identifiers.org/hgnc/8740
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1772
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3243
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27781
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5138
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17491
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1638
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 695
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1493
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1370
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

16-89717959-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89717959
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89717959
    reference: chr 16
allele count: 1
allele frequency: 8.442238206193226e-6
allele num: 118452
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000447899
  ensembl transcript: ENST00000549328
  gene symbol: CHMP1A
  hgvsc: ENST00000549328.1:c.105+18G>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000380998
  ensembl transcript: ENST00000397901
  gene symbol: CHMP1A
  hgvsc: ENST00000397901.3:c.105+18G>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000442120
  ensembl transcript: ENST00000535997
  gene symbol: CHMP1A
  hgvsc: ENST00000535997.2:c.-88+18G>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000449243
  ensembl transcript: ENST00000550102
  gene symbol: CHMP1A
  hgvsc: ENST00000550102.1:c.105+18G>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000253475
  ensembl transcript: ENST00000253475
  gene symbol: CHMP1A
  hgvsc: ENST00000253475.5:c.85+18G>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000551981
  gene symbol: CHMP1A
  hgvsc: ENST00000551981.1:n.122+18G>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000547614
  gene symbol: CHMP1A
  hgvsc: ENST00000547614.1:n.218+18G>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000550872
  gene symbol: CHMP1A
  hgvsc: ENST00000550872.1:n.214+18G>A
  variant of: http://identifiers.org/hgnc/8740
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19503
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5547
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28945
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1989
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6200
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1388
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1100
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

16-89717961-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89717961
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89717961
    reference: chr 16
allele count: 1
allele frequency: 8.43540169382866e-6
allele num: 118548
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000447899
  ensembl transcript: ENST00000549328
  gene symbol: CHMP1A
  hgvsc: ENST00000549328.1:c.105+16C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000380998
  ensembl transcript: ENST00000397901
  gene symbol: CHMP1A
  hgvsc: ENST00000397901.3:c.105+16C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000550872
  gene symbol: CHMP1A
  hgvsc: ENST00000550872.1:n.214+16C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000253475
  ensembl transcript: ENST00000253475
  gene symbol: CHMP1A
  hgvsc: ENST00000253475.5:c.85+16C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000547614
  gene symbol: CHMP1A
  hgvsc: ENST00000547614.1:n.218+16C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000449243
  ensembl transcript: ENST00000550102
  gene symbol: CHMP1A
  hgvsc: ENST00000550102.1:c.105+16C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000551981
  gene symbol: CHMP1A
  hgvsc: ENST00000551981.1:n.122+16C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000442120
  ensembl transcript: ENST00000535997
  gene symbol: CHMP1A
  hgvsc: ENST00000535997.2:c.-88+16C>T
  variant of: http://identifiers.org/hgnc/8740
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19671
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29028
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5624
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1353
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44814
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6230
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/16-89717963-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89717963
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89717963
    reference: chr 16
allele count: 1
allele frequency: 8.424883736604435e-6
allele num: 118696
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000447899
  ensembl transcript: ENST00000549328
  gene symbol: CHMP1A
  hgvsc: ENST00000549328.1:c.105+14G>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000380998
  ensembl transcript: ENST00000397901
  gene symbol: CHMP1A
  hgvsc: ENST00000397901.3:c.105+14G>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000442120
  ensembl transcript: ENST00000535997
  gene symbol: CHMP1A
  hgvsc: ENST00000535997.2:c.-88+14G>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000253475
  ensembl transcript: ENST00000253475
  gene symbol: CHMP1A
  hgvsc: ENST00000253475.5:c.85+14G>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000551981
  gene symbol: CHMP1A
  hgvsc: ENST00000551981.1:n.122+14G>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000547614
  gene symbol: CHMP1A
  hgvsc: ENST00000547614.1:n.218+14G>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000449243
  ensembl transcript: ENST00000550102
  gene symbol: CHMP1A
  hgvsc: ENST00000550102.1:c.105+14G>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000550872
  gene symbol: CHMP1A
  hgvsc: ENST00000550872.1:n.214+14G>T
  variant of: http://identifiers.org/hgnc/8740
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19883
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5612
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29128
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1357
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 936
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

16-89717966-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89717966
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89717966
    reference: chr 16
allele count: 1
allele frequency: 8.413400864897609e-6
allele num: 118858
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000380998
  ensembl transcript: ENST00000397901
  gene symbol: CHMP1A
  hgvsc: ENST00000397901.3:c.105+11G>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000449243
  ensembl transcript: ENST00000550102
  gene symbol: CHMP1A
  hgvsc: ENST00000550102.1:c.105+11G>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000447899
  ensembl transcript: ENST00000549328
  gene symbol: CHMP1A
  hgvsc: ENST00000549328.1:c.105+11G>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000442120
  ensembl transcript: ENST00000535997
  gene symbol: CHMP1A
  hgvsc: ENST00000535997.2:c.-88+11G>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000547614
  gene symbol: CHMP1A
  hgvsc: ENST00000547614.1:n.218+11G>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000551981
  gene symbol: CHMP1A
  hgvsc: ENST00000551981.1:n.122+11G>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000550872
  gene symbol: CHMP1A
  hgvsc: ENST00000550872.1:n.214+11G>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000253475
  ensembl transcript: ENST00000253475
  gene symbol: CHMP1A
  hgvsc: ENST00000253475.5:c.85+11G>A
  variant of: http://identifiers.org/hgnc/8740
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5623
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20081
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29257
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1397
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1981
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

http://identifiers.org/exac.variant/16-89717967-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89717967
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89717967
    reference: chr 16
allele count: 1
allele frequency: 8.410004541402452e-6
allele num: 118906
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000253475
  ensembl transcript: ENST00000253475
  gene symbol: CHMP1A
  hgvsc: ENST00000253475.5:c.85+10T>G
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000442120
  ensembl transcript: ENST00000535997
  gene symbol: CHMP1A
  hgvsc: ENST00000535997.2:c.-88+10T>G
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000551981
  gene symbol: CHMP1A
  hgvsc: ENST00000551981.1:n.122+10T>G
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000449243
  ensembl transcript: ENST00000550102
  gene symbol: CHMP1A
  hgvsc: ENST00000550102.1:c.105+10T>G
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000380998
  ensembl transcript: ENST00000397901
  gene symbol: CHMP1A
  hgvsc: ENST00000397901.3:c.105+10T>G
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000550872
  gene symbol: CHMP1A
  hgvsc: ENST00000550872.1:n.214+10T>G
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000447899
  ensembl transcript: ENST00000549328
  gene symbol: CHMP1A
  hgvsc: ENST00000549328.1:c.105+10T>G
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000547614
  gene symbol: CHMP1A
  hgvsc: ENST00000547614.1:n.218+10T>G
  variant of: http://identifiers.org/hgnc/8740
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5638
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20164
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29291
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1982
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 852
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6330
  bin: 6.75e1
  variant carriers: 0
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: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

16-89717968-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89717968
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89717968
    reference: chr 16
allele count: 1
allele frequency: 8.406752303450132e-6
allele num: 118952
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000442120
  ensembl transcript: ENST00000535997
  gene symbol: CHMP1A
  hgvsc: ENST00000535997.2:c.-88+9C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000447899
  ensembl transcript: ENST00000549328
  gene symbol: CHMP1A
  hgvsc: ENST00000549328.1:c.105+9C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000253475
  ensembl transcript: ENST00000253475
  gene symbol: CHMP1A
  hgvsc: ENST00000253475.5:c.85+9C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000380998
  ensembl transcript: ENST00000397901
  gene symbol: CHMP1A
  hgvsc: ENST00000397901.3:c.105+9C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000547614
  gene symbol: CHMP1A
  hgvsc: ENST00000547614.1:n.218+9C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000449243
  ensembl transcript: ENST00000550102
  gene symbol: CHMP1A
  hgvsc: ENST00000550102.1:c.105+9C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000550872
  gene symbol: CHMP1A
  hgvsc: ENST00000550872.1:n.214+9C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000551981
  gene symbol: CHMP1A
  hgvsc: ENST00000551981.1:n.122+9C>T
  variant of: http://identifiers.org/hgnc/8740
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5648
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29311
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20191
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 825
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

16-89717973-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89717973
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89717973
    reference: chr 16
allele count: 1
allele frequency: 8.393063971933595e-6
allele num: 119146
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000547614
  gene symbol: CHMP1A
  hgvsc: ENST00000547614.1:n.218+4A>G
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000380998
  ensembl transcript: ENST00000397901
  gene symbol: CHMP1A
  hgvsc: ENST00000397901.3:c.105+4A>G
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000447899
  ensembl transcript: ENST00000549328
  gene symbol: CHMP1A
  hgvsc: ENST00000549328.1:c.105+4A>G
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000442120
  ensembl transcript: ENST00000535997
  gene symbol: CHMP1A
  hgvsc: ENST00000535997.2:c.-88+4A>G
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000550872
  gene symbol: CHMP1A
  hgvsc: ENST00000550872.1:n.214+4A>G
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000551981
  gene symbol: CHMP1A
  hgvsc: ENST00000551981.1:n.122+4A>G
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000449243
  ensembl transcript: ENST00000550102
  gene symbol: CHMP1A
  hgvsc: ENST00000550102.1:c.105+4A>G
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000253475
  ensembl transcript: ENST00000253475
  gene symbol: CHMP1A
  hgvsc: ENST00000253475.5:c.85+4A>G
  variant of: http://identifiers.org/hgnc/8740
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5675
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29415
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20393
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1398
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
hgvs: c.105+4A>G
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: African
population: European (Finnish)
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum

16-89717986-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89717986
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89717986
    reference: chr 16
allele count: 1
allele frequency: 8.374648264772879e-6
allele num: 119408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000551981
  gene symbol: CHMP1A
  hgvsc: ENST00000551981.1:n.113A>G
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000449243
  ensembl transcript: ENST00000550102
  gene symbol: CHMP1A
  hgvsc: ENST00000550102.1:c.96A>G
  hgvsp: ENST00000550102.1:c.96A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000442120
  ensembl transcript: ENST00000535997
  gene symbol: CHMP1A
  hgvsc: ENST00000535997.2:c.-97A>G
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000547614
  gene symbol: CHMP1A
  hgvsc: ENST00000547614.1:n.209A>G
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000253475
  ensembl transcript: ENST00000253475
  gene symbol: CHMP1A
  hgvsc: ENST00000253475.5:c.76A>G
  hgvsp: ENSP00000253475.5:p.Ser26Gly
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000380998
  ensembl transcript: ENST00000397901
  gene symbol: CHMP1A
  hgvsc: ENST00000397901.3:c.96A>G
  hgvsp: ENST00000397901.3:c.96A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000550872
  gene symbol: CHMP1A
  hgvsc: ENST00000550872.1:n.205A>G
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000447899
  ensembl transcript: ENST00000549328
  gene symbol: CHMP1A
  hgvsc: ENST00000549328.1:c.96A>G
  hgvsp: ENST00000549328.1:c.96A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8740
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29388
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20741
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5726
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 46632
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser26Gly
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS

16-89717998-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89717998
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89717998
    reference: chr 16
allele count: 1
allele frequency: 8.366240546148183e-6
allele num: 119528
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000550872
  gene symbol: CHMP1A
  hgvsc: ENST00000550872.1:n.193G>C
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000442120
  ensembl transcript: ENST00000535997
  gene symbol: CHMP1A
  hgvsc: ENST00000535997.2:c.-109G>C
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000551981
  gene symbol: CHMP1A
  hgvsc: ENST00000551981.1:n.101G>C
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000547614
  gene symbol: CHMP1A
  hgvsc: ENST00000547614.1:n.197G>C
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000447899
  ensembl transcript: ENST00000549328
  gene symbol: CHMP1A
  hgvsc: ENST00000549328.1:c.84G>C
  hgvsp: ENST00000549328.1:c.84G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000449243
  ensembl transcript: ENST00000550102
  gene symbol: CHMP1A
  hgvsc: ENST00000550102.1:c.84G>C
  hgvsp: ENST00000550102.1:c.84G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000253475
  ensembl transcript: ENST00000253475
  gene symbol: CHMP1A
  hgvsc: ENST00000253475.5:c.64G>C
  hgvsp: ENSP00000253475.5:p.Gly22Arg
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000380998
  ensembl transcript: ENST00000397901
  gene symbol: CHMP1A
  hgvsc: ENST00000397901.3:c.84G>C
  hgvsp: ENST00000397901.3:c.84G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8740
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20956
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5753
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29280
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1985
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6473
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1419
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46778
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly22Arg
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

16-89717998-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89717998
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89717998
    reference: chr 16
allele count: 4
allele frequency: 3.346496218459273e-5
allele num: 119528
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000253475
  ensembl transcript: ENST00000253475
  gene symbol: CHMP1A
  hgvsc: ENST00000253475.5:c.64G>A
  hgvsp: ENSP00000253475.5:p.Gly22Arg
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000551981
  gene symbol: CHMP1A
  hgvsc: ENST00000551981.1:n.101G>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000447899
  ensembl transcript: ENST00000549328
  gene symbol: CHMP1A
  hgvsc: ENST00000549328.1:c.84G>A
  hgvsp: ENST00000549328.1:c.84G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000380998
  ensembl transcript: ENST00000397901
  gene symbol: CHMP1A
  hgvsc: ENST00000397901.3:c.84G>A
  hgvsp: ENST00000397901.3:c.84G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000449243
  ensembl transcript: ENST00000550102
  gene symbol: CHMP1A
  hgvsc: ENST00000550102.1:c.84G>A
  hgvsp: ENST00000550102.1:c.84G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000547614
  gene symbol: CHMP1A
  hgvsc: ENST00000547614.1:n.197G>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000550872
  gene symbol: CHMP1A
  hgvsc: ENST00000550872.1:n.193G>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000442120
  ensembl transcript: ENST00000535997
  gene symbol: CHMP1A
  hgvsc: ENST00000535997.2:c.-109G>A
  variant of: http://identifiers.org/hgnc/8740
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20956
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5753
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29280
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46778
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1351
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1419
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1985
  bin: 9.75e1
  variant carriers: 4
hgvs: p.Gly22Arg
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

16-89717999-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89717999
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89717999
    reference: chr 16
allele count: 3
allele frequency: 2.509368308351178e-5
allele num: 119552
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000449243
  ensembl transcript: ENST00000550102
  gene symbol: CHMP1A
  hgvsc: ENST00000550102.1:c.83C>T
  hgvsp: ENSP00000449243.1:p.Ala28Val
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000253475
  ensembl transcript: ENST00000253475
  gene symbol: CHMP1A
  hgvsc: ENST00000253475.5:c.63C>T
  hgvsp: ENST00000253475.5:c.63C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000447899
  ensembl transcript: ENST00000549328
  gene symbol: CHMP1A
  hgvsc: ENST00000549328.1:c.83C>T
  hgvsp: ENSP00000447899.1:p.Ala28Val
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000442120
  ensembl transcript: ENST00000535997
  gene symbol: CHMP1A
  hgvsc: ENST00000535997.2:c.-110C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000547614
  gene symbol: CHMP1A
  hgvsc: ENST00000547614.1:n.196C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000380998
  ensembl transcript: ENST00000397901
  gene symbol: CHMP1A
  hgvsc: ENST00000397901.3:c.83C>T
  hgvsp: ENSP00000380998.3:p.Ala28Val
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000551981
  gene symbol: CHMP1A
  hgvsc: ENST00000551981.1:n.100C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000550872
  gene symbol: CHMP1A
  hgvsc: ENST00000550872.1:n.192C>T
  variant of: http://identifiers.org/hgnc/8740
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29263
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20997
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5748
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46824
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala28Val
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

16-89718001-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89718001
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89718001
    reference: chr 16
allele count: 3
allele frequency: 2.509452270217821e-5
allele num: 119548
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000442120
  ensembl transcript: ENST00000535997
  gene symbol: CHMP1A
  hgvsc: ENST00000535997.2:c.-112G>C
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000551981
  gene symbol: CHMP1A
  hgvsc: ENST00000551981.1:n.98G>C
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000447899
  ensembl transcript: ENST00000549328
  gene symbol: CHMP1A
  hgvsc: ENST00000549328.1:c.81G>C
  hgvsp: ENSP00000447899.1:p.Lys27Asn
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000547614
  gene symbol: CHMP1A
  hgvsc: ENST00000547614.1:n.194G>C
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000449243
  ensembl transcript: ENST00000550102
  gene symbol: CHMP1A
  hgvsc: ENST00000550102.1:c.81G>C
  hgvsp: ENSP00000449243.1:p.Lys27Asn
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000380998
  ensembl transcript: ENST00000397901
  gene symbol: CHMP1A
  hgvsc: ENST00000397901.3:c.81G>C
  hgvsp: ENSP00000380998.3:p.Lys27Asn
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000253475
  ensembl transcript: ENST00000253475
  gene symbol: CHMP1A
  hgvsc: ENST00000253475.5:c.61G>C
  hgvsp: ENSP00000253475.5:p.Gly21Arg
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000550872
  gene symbol: CHMP1A
  hgvsc: ENST00000550872.1:n.190G>C
  variant of: http://identifiers.org/hgnc/8740
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21017
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29215
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5761
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1417
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Lys27Asn
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

16-89718009-CCTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89718009
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89718006
    reference: chr 16
allele count: 1
allele frequency: 8.365400702693659e-6
allele num: 119540
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000380998
  ensembl transcript: ENST00000397901
  gene symbol: CHMP1A
  hgvsc: ENST00000397901.3:c.70_72delAAG
  hgvsp: ENSP00000380998.3:p.Lys24del
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000551981
  gene symbol: CHMP1A
  hgvsc: ENST00000551981.1:n.87_89delAAG
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000253475
  ensembl transcript: ENST00000253475
  gene symbol: CHMP1A
  hgvsc: ENST00000253475.5:c.50_52delAAG
  hgvsp: ENSP00000253475.5:p.Glu17del
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000447899
  ensembl transcript: ENST00000549328
  gene symbol: CHMP1A
  hgvsc: ENST00000549328.1:c.70_72delAAG
  hgvsp: ENSP00000447899.1:p.Lys24del
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000550872
  gene symbol: CHMP1A
  hgvsc: ENST00000550872.1:n.179_181delAAG
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000442120
  ensembl transcript: ENST00000535997
  gene symbol: CHMP1A
  hgvsc: ENST00000535997.2:c.-123_-121delAAG
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000547614
  gene symbol: CHMP1A
  hgvsc: ENST00000547614.1:n.183_185delAAG
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000449243
  ensembl transcript: ENST00000550102
  gene symbol: CHMP1A
  hgvsc: ENST00000550102.1:c.70_72delAAG
  hgvsp: ENSP00000449243.1:p.Lys24del
  variant of: http://identifiers.org/hgnc/8740
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 29022
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21144
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5755
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46510
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6456
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1354
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Lys24del
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: CCTT
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

16-89718012-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89718012
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89718012
    reference: chr 16
allele count: 1
allele frequency: 8.365260745177427e-6
allele num: 119542
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000550872
  gene symbol: CHMP1A
  hgvsc: ENST00000550872.1:n.179A>C
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000380998
  ensembl transcript: ENST00000397901
  gene symbol: CHMP1A
  hgvsc: ENST00000397901.3:c.70A>C
  hgvsp: ENSP00000380998.3:p.Lys24Gln
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000442120
  ensembl transcript: ENST00000535997
  gene symbol: CHMP1A
  hgvsc: ENST00000535997.2:c.-123A>C
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000253475
  ensembl transcript: ENST00000253475
  gene symbol: CHMP1A
  hgvsc: ENST00000253475.5:c.50A>C
  hgvsp: ENSP00000253475.5:p.Glu17Ala
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000551981
  gene symbol: CHMP1A
  hgvsc: ENST00000551981.1:n.87A>C
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000447899
  ensembl transcript: ENST00000549328
  gene symbol: CHMP1A
  hgvsc: ENST00000549328.1:c.70A>C
  hgvsp: ENSP00000447899.1:p.Lys24Gln
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000449243
  ensembl transcript: ENST00000550102
  gene symbol: CHMP1A
  hgvsc: ENST00000550102.1:c.70A>C
  hgvsp: ENSP00000449243.1:p.Lys24Gln
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000547614
  gene symbol: CHMP1A
  hgvsc: ENST00000547614.1:n.183A>C
  variant of: http://identifiers.org/hgnc/8740
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5761
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29034
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21147
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Lys24Gln
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: MQ

16-89718016-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89718016
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89718016
    reference: chr 16
allele count: 2
allele frequency: 1.673332106223122e-5
allele num: 119522
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000442120
  ensembl transcript: ENST00000535997
  gene symbol: CHMP1A
  hgvsc: ENST00000535997.2:c.-127G>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000447899
  ensembl transcript: ENST00000549328
  gene symbol: CHMP1A
  hgvsc: ENST00000549328.1:c.66G>A
  hgvsp: ENST00000549328.1:c.66G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000547614
  gene symbol: CHMP1A
  hgvsc: ENST00000547614.1:n.179G>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000551981
  gene symbol: CHMP1A
  hgvsc: ENST00000551981.1:n.83G>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000380998
  ensembl transcript: ENST00000397901
  gene symbol: CHMP1A
  hgvsc: ENST00000397901.3:c.66G>A
  hgvsp: ENST00000397901.3:c.66G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000253475
  ensembl transcript: ENST00000253475
  gene symbol: CHMP1A
  hgvsc: ENST00000253475.5:c.46G>A
  hgvsp: ENSP00000253475.5:p.Gly16Arg
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000449243
  ensembl transcript: ENST00000550102
  gene symbol: CHMP1A
  hgvsc: ENST00000550102.1:c.66G>A
  hgvsp: ENST00000550102.1:c.66G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000550872
  gene symbol: CHMP1A
  hgvsc: ENST00000550872.1:n.175G>A
  variant of: http://identifiers.org/hgnc/8740
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5773
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29005
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21157
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1405
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly16Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD

16-89718017-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89718017
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89718017
    reference: chr 16
allele count: 1
allele frequency: 8.369041242635244e-6
allele num: 119488
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000547614
  gene symbol: CHMP1A
  hgvsc: ENST00000547614.1:n.178C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000380998
  ensembl transcript: ENST00000397901
  gene symbol: CHMP1A
  hgvsc: ENST00000397901.3:c.65C>T
  hgvsp: ENSP00000380998.3:p.Ala22Val
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000551981
  gene symbol: CHMP1A
  hgvsc: ENST00000551981.1:n.82C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000550872
  gene symbol: CHMP1A
  hgvsc: ENST00000550872.1:n.174C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000447899
  ensembl transcript: ENST00000549328
  gene symbol: CHMP1A
  hgvsc: ENST00000549328.1:c.65C>T
  hgvsp: ENSP00000447899.1:p.Ala22Val
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000449243
  ensembl transcript: ENST00000550102
  gene symbol: CHMP1A
  hgvsc: ENST00000550102.1:c.65C>T
  hgvsp: ENSP00000449243.1:p.Ala22Val
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000253475
  ensembl transcript: ENST00000253475
  gene symbol: CHMP1A
  hgvsc: ENST00000253475.5:c.45C>T
  hgvsp: ENST00000253475.5:c.45C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000442120
  ensembl transcript: ENST00000535997
  gene symbol: CHMP1A
  hgvsc: ENST00000535997.2:c.-128C>T
  variant of: http://identifiers.org/hgnc/8740
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21172
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5778
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28943
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1346
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala22Val
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum

16-89718019-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89718019
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89718019
    reference: chr 16
allele count: 1
allele frequency: 8.368480953337351e-6
allele num: 119496
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000449243
  ensembl transcript: ENST00000550102
  gene symbol: CHMP1A
  hgvsc: ENST00000550102.1:c.63G>A
  hgvsp: ENST00000550102.1:c.63G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000547614
  gene symbol: CHMP1A
  hgvsc: ENST00000547614.1:n.176G>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000550872
  gene symbol: CHMP1A
  hgvsc: ENST00000550872.1:n.172G>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000380998
  ensembl transcript: ENST00000397901
  gene symbol: CHMP1A
  hgvsc: ENST00000397901.3:c.63G>A
  hgvsp: ENST00000397901.3:c.63G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000253475
  ensembl transcript: ENST00000253475
  gene symbol: CHMP1A
  hgvsc: ENST00000253475.5:c.43G>A
  hgvsp: ENSP00000253475.5:p.Gly15Ser
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000447899
  ensembl transcript: ENST00000549328
  gene symbol: CHMP1A
  hgvsc: ENST00000549328.1:c.63G>A
  hgvsp: ENST00000549328.1:c.63G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000442120
  ensembl transcript: ENST00000535997
  gene symbol: CHMP1A
  hgvsc: ENST00000535997.2:c.-130G>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000551981
  gene symbol: CHMP1A
  hgvsc: ENST00000551981.1:n.80G>A
  variant of: http://identifiers.org/hgnc/8740
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21203
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28948
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5768
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46797
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly15Ser
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

16-89718021-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89718021
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89718021
    reference: chr 16
allele count: 3
allele frequency: 2.511132688251247e-5
allele num: 119468
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000550872
  gene symbol: CHMP1A
  hgvsc: ENST00000550872.1:n.170A>G
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000380998
  ensembl transcript: ENST00000397901
  gene symbol: CHMP1A
  hgvsc: ENST00000397901.3:c.61A>G
  hgvsp: ENSP00000380998.3:p.Lys21Glu
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000447899
  ensembl transcript: ENST00000549328
  gene symbol: CHMP1A
  hgvsc: ENST00000549328.1:c.61A>G
  hgvsp: ENSP00000447899.1:p.Lys21Glu
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000547614
  gene symbol: CHMP1A
  hgvsc: ENST00000547614.1:n.174A>G
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000442120
  ensembl transcript: ENST00000535997
  gene symbol: CHMP1A
  hgvsc: ENST00000535997.2:c.-132A>G
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000551981
  gene symbol: CHMP1A
  hgvsc: ENST00000551981.1:n.78A>G
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000449243
  ensembl transcript: ENST00000550102
  gene symbol: CHMP1A
  hgvsc: ENST00000550102.1:c.61A>G
  hgvsp: ENSP00000449243.1:p.Lys21Glu
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000253475
  ensembl transcript: ENST00000253475
  gene symbol: CHMP1A
  hgvsc: ENST00000253475.5:c.41A>G
  hgvsp: ENSP00000253475.5:p.Glu14Gly
  variant of: http://identifiers.org/hgnc/8740
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21203
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5761
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28916
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1344
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Lys21Glu
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

16-89718024-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89718024
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89718024
    reference: chr 16
allele count: 1
allele frequency: 8.371283150281276e-6
allele num: 119456
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000551981
  gene symbol: CHMP1A
  hgvsc: ENST00000551981.1:n.75A>G
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000253475
  ensembl transcript: ENST00000253475
  gene symbol: CHMP1A
  hgvsc: ENST00000253475.5:c.38A>G
  hgvsp: ENSP00000253475.5:p.Gln13Arg
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000449243
  ensembl transcript: ENST00000550102
  gene symbol: CHMP1A
  hgvsc: ENST00000550102.1:c.58A>G
  hgvsp: ENSP00000449243.1:p.Lys20Glu
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000547614
  gene symbol: CHMP1A
  hgvsc: ENST00000547614.1:n.171A>G
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000380998
  ensembl transcript: ENST00000397901
  gene symbol: CHMP1A
  hgvsc: ENST00000397901.3:c.58A>G
  hgvsp: ENSP00000380998.3:p.Lys20Glu
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000442120
  ensembl transcript: ENST00000535997
  gene symbol: CHMP1A
  hgvsc: ENST00000535997.2:c.-135A>G
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000550872
  gene symbol: CHMP1A
  hgvsc: ENST00000550872.1:n.167A>G
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000447899
  ensembl transcript: ENST00000549328
  gene symbol: CHMP1A
  hgvsc: ENST00000549328.1:c.58A>G
  hgvsp: ENSP00000447899.1:p.Lys20Glu
  variant of: http://identifiers.org/hgnc/8740
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21214
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5767
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28856
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46700
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Lys20Glu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

16-89718031-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89718031
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89718031
    reference: chr 16
allele count: 1
allele frequency: 8.379981899239097e-6
allele num: 119332
alternate allele: G
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000547614
  gene symbol: CHMP1A
  hgvsc: ENST00000547614.1:n.164G>C
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000442120
  ensembl transcript: ENST00000535997
  gene symbol: CHMP1A
  hgvsc: ENST00000535997.2:c.-142G>C
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000380998
  ensembl transcript: ENST00000397901
  gene symbol: CHMP1A
  hgvsc: ENST00000397901.3:c.51G>C
  hgvsp: ENSP00000380998.3:p.Lys17Asn
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000253475
  ensembl transcript: ENST00000253475
  gene symbol: CHMP1A
  hgvsc: ENST00000253475.5:c.31G>C
  hgvsp: ENSP00000253475.5:p.Ala11Pro
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000447899
  ensembl transcript: ENST00000549328
  gene symbol: CHMP1A
  hgvsc: ENST00000549328.1:c.51G>C
  hgvsp: ENSP00000447899.1:p.Lys17Asn
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000449243
  ensembl transcript: ENST00000550102
  gene symbol: CHMP1A
  hgvsc: ENST00000550102.1:c.51G>C
  hgvsp: ENSP00000449243.1:p.Lys17Asn
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000550872
  gene symbol: CHMP1A
  hgvsc: ENST00000550872.1:n.160G>C
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000551981
  gene symbol: CHMP1A
  hgvsc: ENST00000551981.1:n.68G>C
  variant of: http://identifiers.org/hgnc/8740
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5760
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28603
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21237
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46456
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Lys17Asn
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

16-89718031-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89718031
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89718031
    reference: chr 16
allele count: 71
allele frequency: 5.949787148459759e-4
allele num: 119332
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000547614
  gene symbol: CHMP1A
  hgvsc: ENST00000547614.1:n.164G>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000449243
  ensembl transcript: ENST00000550102
  gene symbol: CHMP1A
  hgvsc: ENST00000550102.1:c.51G>A
  hgvsp: ENST00000550102.1:c.51G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000550872
  gene symbol: CHMP1A
  hgvsc: ENST00000550872.1:n.160G>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000442120
  ensembl transcript: ENST00000535997
  gene symbol: CHMP1A
  hgvsc: ENST00000535997.2:c.-142G>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000551981
  gene symbol: CHMP1A
  hgvsc: ENST00000551981.1:n.68G>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000380998
  ensembl transcript: ENST00000397901
  gene symbol: CHMP1A
  hgvsc: ENST00000397901.3:c.51G>A
  hgvsp: ENST00000397901.3:c.51G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000253475
  ensembl transcript: ENST00000253475
  gene symbol: CHMP1A
  hgvsc: ENST00000253475.5:c.31G>A
  hgvsp: ENSP00000253475.5:p.Ala11Thr
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000447899
  ensembl transcript: ENST00000549328
  gene symbol: CHMP1A
  hgvsc: ENST00000549328.1:c.51G>A
  hgvsp: ENST00000549328.1:c.51G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8740
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 3.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 4.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 5760
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 28603
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21237
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2035
  bin: 9.75e1
  variant carriers: 71
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala11Thr
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

16-89718049-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89718049
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89718049
    reference: chr 16
allele count: 25
allele frequency: 2.105227701428186e-4
allele num: 118752
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000253475
  ensembl transcript: ENST00000253475
  gene symbol: CHMP1A
  hgvsc: ENST00000253475.5:c.13G>A
  hgvsp: ENSP00000253475.5:p.Gly5Ser
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000550872
  gene symbol: CHMP1A
  hgvsc: ENST00000550872.1:n.142G>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000547614
  gene symbol: CHMP1A
  hgvsc: ENST00000547614.1:n.146G>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000551981
  gene symbol: CHMP1A
  hgvsc: ENST00000551981.1:n.50G>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000449243
  ensembl transcript: ENST00000550102
  gene symbol: CHMP1A
  hgvsc: ENST00000550102.1:c.33G>A
  hgvsp: ENST00000550102.1:c.33G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000447899
  ensembl transcript: ENST00000549328
  gene symbol: CHMP1A
  hgvsc: ENST00000549328.1:c.33G>A
  hgvsp: ENST00000549328.1:c.33G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000442120
  ensembl transcript: ENST00000535997
  gene symbol: CHMP1A
  hgvsc: ENST00000535997.2:c.-160G>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000380998
  ensembl transcript: ENST00000397901
  gene symbol: CHMP1A
  hgvsc: ENST00000397901.3:c.33G>A
  hgvsp: ENST00000397901.3:c.33G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8740
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21263
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27596
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5750
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45676
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1260
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gly5Ser
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff

16-89718050-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89718050
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89718050
    reference: chr 16
allele count: 6
allele frequency: 5.057998381440518e-5
allele num: 118624
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000447899
  ensembl transcript: ENST00000549328
  gene symbol: CHMP1A
  hgvsc: ENST00000549328.1:c.32C>T
  hgvsp: ENSP00000447899.1:p.Thr11Met
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000380998
  ensembl transcript: ENST00000397901
  gene symbol: CHMP1A
  hgvsc: ENST00000397901.3:c.32C>T
  hgvsp: ENSP00000380998.3:p.Thr11Met
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000449243
  ensembl transcript: ENST00000550102
  gene symbol: CHMP1A
  hgvsc: ENST00000550102.1:c.32C>T
  hgvsp: ENSP00000449243.1:p.Thr11Met
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000551981
  gene symbol: CHMP1A
  hgvsc: ENST00000551981.1:n.49C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000547614
  gene symbol: CHMP1A
  hgvsc: ENST00000547614.1:n.145C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000550872
  gene symbol: CHMP1A
  hgvsc: ENST00000550872.1:n.141C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000442120
  ensembl transcript: ENST00000535997
  gene symbol: CHMP1A
  hgvsc: ENST00000535997.2:c.-161C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000253475
  ensembl transcript: ENST00000253475
  gene symbol: CHMP1A
  hgvsc: ENST00000253475.5:c.12C>T
  hgvsp: ENST00000253475.5:c.12C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8740
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27338
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5788
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21297
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1496
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1309
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1236
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr11Met
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

16-89718060-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89718060
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89718060
    reference: chr 16
allele count: 2
allele frequency: 1.706484641638225e-5
allele num: 117200
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000253475
  ensembl transcript: ENST00000253475
  gene symbol: CHMP1A
  hgvsc: ENST00000253475.5:c.8-6G>C
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000550872
  gene symbol: CHMP1A
  hgvsc: ENST00000550872.1:n.137-6G>C
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000449243
  ensembl transcript: ENST00000550102
  gene symbol: CHMP1A
  hgvsc: ENST00000550102.1:c.28-6G>C
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000442120
  ensembl transcript: ENST00000535997
  gene symbol: CHMP1A
  hgvsc: ENST00000535997.2:c.-165-6G>C
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000551981
  gene symbol: CHMP1A
  hgvsc: ENST00000551981.1:n.45-6G>C
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000447899
  ensembl transcript: ENST00000549328
  gene symbol: CHMP1A
  hgvsc: ENST00000549328.1:c.28-6G>C
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000380998
  ensembl transcript: ENST00000397901
  gene symbol: CHMP1A
  hgvsc: ENST00000397901.3:c.28-6G>C
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000547614
  gene symbol: CHMP1A
  hgvsc: ENST00000547614.1:n.141-6G>C
  variant of: http://identifiers.org/hgnc/8740
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20276
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24625
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3542
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5704
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1231
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5767
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
hgvs: c.28-6G>C
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

16-89718060-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89718060
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89718060
    reference: chr 16
allele count: 7
allele frequency: 5.972696245733788e-5
allele num: 117200
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000551981
  gene symbol: CHMP1A
  hgvsc: ENST00000551981.1:n.45-6G>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000253475
  ensembl transcript: ENST00000253475
  gene symbol: CHMP1A
  hgvsc: ENST00000253475.5:c.8-6G>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000447899
  ensembl transcript: ENST00000549328
  gene symbol: CHMP1A
  hgvsc: ENST00000549328.1:c.28-6G>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000442120
  ensembl transcript: ENST00000535997
  gene symbol: CHMP1A
  hgvsc: ENST00000535997.2:c.-165-6G>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000449243
  ensembl transcript: ENST00000550102
  gene symbol: CHMP1A
  hgvsc: ENST00000550102.1:c.28-6G>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000380998
  ensembl transcript: ENST00000397901
  gene symbol: CHMP1A
  hgvsc: ENST00000397901.3:c.28-6G>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000550872
  gene symbol: CHMP1A
  hgvsc: ENST00000550872.1:n.137-6G>A
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000547614
  gene symbol: CHMP1A
  hgvsc: ENST00000547614.1:n.141-6G>A
  variant of: http://identifiers.org/hgnc/8740
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3542
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20276
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5704
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24625
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3513
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5767
  bin: 6.75e1
  variant carriers: 0
hgvs: c.28-6G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

16-89718061-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89718061
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89718061
    reference: chr 16
allele count: 3
allele frequency: 2.561125529299276e-5
allele num: 117136
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000447899
  ensembl transcript: ENST00000549328
  gene symbol: CHMP1A
  hgvsc: ENST00000549328.1:c.28-7C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000449243
  ensembl transcript: ENST00000550102
  gene symbol: CHMP1A
  hgvsc: ENST00000550102.1:c.28-7C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000550872
  gene symbol: CHMP1A
  hgvsc: ENST00000550872.1:n.137-7C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000380998
  ensembl transcript: ENST00000397901
  gene symbol: CHMP1A
  hgvsc: ENST00000397901.3:c.28-7C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000442120
  ensembl transcript: ENST00000535997
  gene symbol: CHMP1A
  hgvsc: ENST00000535997.2:c.-165-7C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000253475
  ensembl transcript: ENST00000253475
  gene symbol: CHMP1A
  hgvsc: ENST00000253475.5:c.8-7C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000547614
  gene symbol: CHMP1A
  hgvsc: ENST00000547614.1:n.141-7C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000551981
  gene symbol: CHMP1A
  hgvsc: ENST00000551981.1:n.45-7C>T
  variant of: http://identifiers.org/hgnc/8740
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20394
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3547
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24588
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5630
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3547
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1961
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
hgvs: c.28-7C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: Latino
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP

16-89718065-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89718065
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89718065
    reference: chr 16
allele count: 1
allele frequency: 8.565603960735272e-6
allele num: 116746
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000449243
  ensembl transcript: ENST00000550102
  gene symbol: CHMP1A
  hgvsc: ENST00000550102.1:c.28-11C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000380998
  ensembl transcript: ENST00000397901
  gene symbol: CHMP1A
  hgvsc: ENST00000397901.3:c.28-11C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000253475
  ensembl transcript: ENST00000253475
  gene symbol: CHMP1A
  hgvsc: ENST00000253475.5:c.8-11C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000442120
  ensembl transcript: ENST00000535997
  gene symbol: CHMP1A
  hgvsc: ENST00000535997.2:c.-165-11C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000550872
  gene symbol: CHMP1A
  hgvsc: ENST00000550872.1:n.137-11C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000547614
  gene symbol: CHMP1A
  hgvsc: ENST00000547614.1:n.141-11C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000551981
  gene symbol: CHMP1A
  hgvsc: ENST00000551981.1:n.45-11C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000447899
  ensembl transcript: ENST00000549328
  gene symbol: CHMP1A
  hgvsc: ENST00000549328.1:c.28-11C>T
  variant of: http://identifiers.org/hgnc/8740
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19918
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5457
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4669
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23542
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1958
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1218
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1168
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5657
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/16-89718067-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89718067
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89718067
    reference: chr 16
allele count: 1
allele frequency: 8.581333882538702e-6
allele num: 116532
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000442120
  ensembl transcript: ENST00000535997
  gene symbol: CHMP1A
  hgvsc: ENST00000535997.2:c.-165-13G>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: true
  clinical significance: pathogenic
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000380998
  ensembl transcript: ENST00000397901
  gene symbol: CHMP1A
  hgvsc: ENST00000397901.3:c.28-13G>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000253475
  ensembl transcript: ENST00000253475
  gene symbol: CHMP1A
  hgvsc: ENST00000253475.5:c.8-13G>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000449243
  ensembl transcript: ENST00000550102
  gene symbol: CHMP1A
  hgvsc: ENST00000550102.1:c.28-13G>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000447899
  ensembl transcript: ENST00000549328
  gene symbol: CHMP1A
  hgvsc: ENST00000549328.1:c.28-13G>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000551981
  gene symbol: CHMP1A
  hgvsc: ENST00000551981.1:n.45-13G>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000550872
  gene symbol: CHMP1A
  hgvsc: ENST00000550872.1:n.137-13G>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000547614
  gene symbol: CHMP1A
  hgvsc: ENST00000547614.1:n.141-13G>T
  variant of: http://identifiers.org/hgnc/8740
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5237
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19655
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1773
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1621
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5441
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22970
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1198
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4807
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 730
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39542
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

16-89718068-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89718068
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89718068
    reference: chr 16
allele count: 31
allele frequency: 2.67107825397646e-4
allele num: 116058
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000547614
  gene symbol: CHMP1A
  hgvsc: ENST00000547614.1:n.141-14C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000550872
  gene symbol: CHMP1A
  hgvsc: ENST00000550872.1:n.137-14C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000447899
  ensembl transcript: ENST00000549328
  gene symbol: CHMP1A
  hgvsc: ENST00000549328.1:c.28-14C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000449243
  ensembl transcript: ENST00000550102
  gene symbol: CHMP1A
  hgvsc: ENST00000550102.1:c.28-14C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000442120
  ensembl transcript: ENST00000535997
  gene symbol: CHMP1A
  hgvsc: ENST00000535997.2:c.-165-14C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000253475
  ensembl transcript: ENST00000253475
  gene symbol: CHMP1A
  hgvsc: ENST00000253475.5:c.8-14C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000551981
  gene symbol: CHMP1A
  hgvsc: ENST00000551981.1:n.45-14C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000380998
  ensembl transcript: ENST00000397901
  gene symbol: CHMP1A
  hgvsc: ENST00000397901.3:c.28-14C>T
  variant of: http://identifiers.org/hgnc/8740
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6422
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1932
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19106
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5415
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 21674
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2094
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 3.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1910
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5626
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36938
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1592
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum

16-89718077-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89718077
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89718077
    reference: chr 16
allele count: 1
allele frequency: 8.673026886383348e-6
allele num: 115300
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000380998
  ensembl transcript: ENST00000397901
  gene symbol: CHMP1A
  hgvsc: ENST00000397901.3:c.28-23A>G
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000547614
  gene symbol: CHMP1A
  hgvsc: ENST00000547614.1:n.141-23A>G
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000442120
  ensembl transcript: ENST00000535997
  gene symbol: CHMP1A
  hgvsc: ENST00000535997.2:c.-165-23A>G
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000449243
  ensembl transcript: ENST00000550102
  gene symbol: CHMP1A
  hgvsc: ENST00000550102.1:c.28-23A>G
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000447899
  ensembl transcript: ENST00000549328
  gene symbol: CHMP1A
  hgvsc: ENST00000549328.1:c.28-23A>G
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000551981
  gene symbol: CHMP1A
  hgvsc: ENST00000551981.1:n.45-23A>G
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000550872
  gene symbol: CHMP1A
  hgvsc: ENST00000550872.1:n.137-23A>G
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000253475
  ensembl transcript: ENST00000253475
  gene symbol: CHMP1A
  hgvsc: ENST00000253475.5:c.8-23A>G
  variant of: http://identifiers.org/hgnc/8740
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9917
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17307
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4976
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2273
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4238
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17958
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2620
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1865
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3448
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4838
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1954
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 32664
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1032
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

16-89718080-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89718080
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89718080
    reference: chr 16
allele count: 1
allele frequency: 8.706857520983527e-6
allele num: 114852
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000253475
  ensembl transcript: ENST00000253475
  gene symbol: CHMP1A
  hgvsc: ENST00000253475.5:c.8-26C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000550872
  gene symbol: CHMP1A
  hgvsc: ENST00000550872.1:n.137-26C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000551981
  gene symbol: CHMP1A
  hgvsc: ENST00000551981.1:n.45-26C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000442120
  ensembl transcript: ENST00000535997
  gene symbol: CHMP1A
  hgvsc: ENST00000535997.2:c.-165-26C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000449243
  ensembl transcript: ENST00000550102
  gene symbol: CHMP1A
  hgvsc: ENST00000550102.1:c.28-26C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl transcript: ENST00000547614
  gene symbol: CHMP1A
  hgvsc: ENST00000547614.1:n.141-26C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000380998
  ensembl transcript: ENST00000397901
  gene symbol: CHMP1A
  hgvsc: ENST00000397901.3:c.28-26C>T
  variant of: http://identifiers.org/hgnc/8740
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131165
  ensembl protein: ENSP00000447899
  ensembl transcript: ENST00000549328
  gene symbol: CHMP1A
  hgvsc: ENST00000549328.1:c.28-26C>T
  variant of: http://identifiers.org/hgnc/8740
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6807
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4716
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15519
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14823
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12343
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 3698
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1009
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 71
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33675
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2428
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3875
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 23
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1274
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10178
bin: 6.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9748
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.059871530723549e-5
allele num: 16502
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65960
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 4.07e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.57e0

FS
type: SiteQuality
SIO_000300: 1.927e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.15e-1

MQ
type: SiteQuality
SIO_000300: 5.485e1

DP
type: SiteQuality
SIO_000300: 1.787819e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

MQRankSum
type: SiteQuality
SIO_000300: -4.708e0

VQSLOD
type: SiteQuality
SIO_000300: 9.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.254e0

GenotypeQuality
all individuals: 184
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 33700
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2429
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10174
bin: 6.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9748
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516254245511887e-5
allele num: 65952
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

QD
type: SiteQuality
SIO_000300: 9.81e0

MQRankSum
type: SiteQuality
SIO_000300: 3.08e-1

DP
type: SiteQuality
SIO_000300: 1.787746e6

FS
type: SiteQuality
SIO_000300: 1.2237e1

VQSLOD
type: SiteQuality
SIO_000300: -1.824e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.489e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e0

GenotypeQuality
all individuals: 3873
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 21
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3335
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 483
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3695
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1005
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 1.026694045174538e-4
allele num: 9740
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65938
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.786793e6

QD
type: SiteQuality
SIO_000300: 1.292e1

VQSLOD
type: SiteQuality
SIO_000300: 5.26e0

MQRankSum
type: SiteQuality
SIO_000300: 2.9e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.08e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.6e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

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

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

GenotypeQuality
all individuals: 3873
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 21
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 24
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 483
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1005
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33662
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 3695
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2426
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1272
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3335
bin: 7.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 1
allele frequency: 1.026694045174538e-4
allele num: 9740
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.061603324334981e-4
allele num: 65938
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: 894
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.9e-1

QD
type: SiteQuality
SIO_000300: 1.292e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.6e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.3e-1

DP
type: SiteQuality
SIO_000300: 1.786793e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

VQSLOD
type: SiteQuality
SIO_000300: 5.26e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.08e0

GenotypeQuality
all individuals: 3335
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2426
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1272
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 186
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 483
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1005
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10170
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3873
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 33662
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9740
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.160362032954282e-4
allele num: 8618
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65938
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.3e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.786793e6

MQRankSum
type: SiteQuality
SIO_000300: 2.9e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.08e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

MQ
type: SiteQuality
SIO_000300: 5.969e1

QD
type: SiteQuality
SIO_000300: 1.292e1

VQSLOD
type: SiteQuality
SIO_000300: 5.26e0

GenotypeQuality
all individuals: 37
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3306
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.027960526315789e-4
allele num: 9728
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65838
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.05e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.8e-1

FS
type: SiteQuality
SIO_000300: 6.75e0

MQ
type: SiteQuality
SIO_000300: 5.955e1

QD
type: SiteQuality
SIO_000300: 1.357e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.11e-1

DP
type: SiteQuality
SIO_000300: 1.780903e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.97e0

VQSLOD
type: SiteQuality
SIO_000300: 6.18e-1

GenotypeQuality
all individuals: 119
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3853
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1000
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2420
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33548
bin: 6.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 1.027749229188078e-4
allele num: 9730
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65834
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.780772e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.25e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.39e-1

FS
type: SiteQuality
SIO_000300: 1.808e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.17e0

QD
type: SiteQuality
SIO_000300: 1.645e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.22e0

MQ
type: SiteQuality
SIO_000300: 5.947e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.74e-1

GenotypeQuality
all individuals: 16
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9972
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 3838
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1259
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3279
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 812
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3622
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

African
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allele frequency: 1.029442042413012e-4
allele num: 9714
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65696
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8604
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South Asian
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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
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ReadPosRankSum
type: SiteQuality
SIO_000300: 3.5e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.48e-1

MQRankSum
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SIO_000300: -2.04e-1

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.0e0

QD
type: SiteQuality
SIO_000300: 1.015e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.771558e6

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.524715640533041e-5
allele num: 65586
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9682
num of homozygotes: 0

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.52e0

MQRankSum
type: SiteQuality
SIO_000300: -4.02e-1

QD
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VQSLOD
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MQ
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SIO_000300: 5.807e1

DP
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 5.42e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.07e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1.75e1
variant carriers: 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: 16472
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9664
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: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11440
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.577916132576451e-5
allele num: 65532
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.0e-2

DP
type: SiteQuality
SIO_000300: 1.759859e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.4e-1

MQ
type: SiteQuality
SIO_000300: 5.953e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

FS
type: SiteQuality
SIO_000300: 8.630000000000001e0

QD
type: SiteQuality
SIO_000300: 1.104e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.73e-1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 308
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.528537800739812e-5
allele num: 65422
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9654
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16456
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -4.62e-1

QD
type: SiteQuality
SIO_000300: 1.096e1

MQRankSum
type: SiteQuality
SIO_000300: 5.35e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

DP
type: SiteQuality
SIO_000300: 1.75044e6

MQ
type: SiteQuality
SIO_000300: 5.909e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.051e0

GenotypeQuality
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variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9634
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16442
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: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.531534291052777e-5
allele num: 65294
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.914e1

ReadPosRankSum
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FS
type: SiteQuality
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BaseQRankSum
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 1.63e0

QD
type: SiteQuality
SIO_000300: 1.172e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.95e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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allele count: 0
allele frequency: 0.0e0
allele num: 16430
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9628
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65238
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6558
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11364
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.164686699277894e-4
allele num: 8586
num of homozygotes: 0

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

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

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

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

African
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South Asian
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6548
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.533789380042332e-5
allele num: 65198
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DP
type: SiteQuality
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InbreedingCoeff
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QD
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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FS
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MQRankSum
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ClippingRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16418
num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 4.607587160190447e-5
allele num: 65110
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
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Other
type: Population
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allele frequency: 0.0e0
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num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.13e0

InbreedingCoeff
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DP
type: SiteQuality
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QD
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BaseQRankSum
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ClippingRankSum
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FS
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MQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.956e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.25e-1

GenotypeQuality
all individuals: 1423
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 396
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 981
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28012
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2536
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1038
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8755
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3796
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 89
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 535
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 915
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 808
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1222
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2963
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 954
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3369
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.349624060150376e-4
allele num: 8512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.541212009123975e-5
allele num: 64884
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9580
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11278
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.293e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.06e-1

DP
type: SiteQuality
SIO_000300: 1.681213e6

VQSLOD
type: SiteQuality
SIO_000300: 1.62e0

MQ
type: SiteQuality
SIO_000300: 5.947e1

FS
type: SiteQuality
SIO_000300: 5.469e0

QD
type: SiteQuality
SIO_000300: 1.213e1

GenotypeQuality
all individuals: 609
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 273
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2068
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1021
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1332
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6297
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 338
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 872
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 534
bin: 5.75e1
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GenotypeQuality
all individuals: 8322
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2545
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27837
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 873
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1062
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2750
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6524
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.169221752675899e-5
allele num: 64838
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9570
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8446
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11276
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16380
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.8e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.32e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.1e-1

QD
type: SiteQuality
SIO_000300: 1.788e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.32e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.996e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

FS
type: SiteQuality
SIO_000300: 2.225e0

DP
type: SiteQuality
SIO_000300: 1.700628e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.3e0

GenotypeQuality
all individuals: 72
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6297
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 273
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 378
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 609
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3087
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 534
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 872
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2750
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8322
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1332
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1062
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27837
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2068
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.868393047179851e-5
allele num: 11276
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64838
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6524
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9570
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16380
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8446
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.225e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.3e0

DP
type: SiteQuality
SIO_000300: 1.700628e6

QD
type: SiteQuality
SIO_000300: 1.788e1

MQRankSum
type: SiteQuality
SIO_000300: 1.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.996e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.32e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.32e0

MQ
type: SiteQuality
SIO_000300: 5.948e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.1e-1

GenotypeQuality
all individuals: 72
bin: 2.5e0
variant carriers: 5

GenotypeQuality
all individuals: 68
bin: 1.25e1
variant carriers: 12

GenotypeQuality
all individuals: 273
bin: 7.5e0
variant carriers: 12

GenotypeQuality
all individuals: 873
bin: 3.75e1
variant carriers: 25

GenotypeQuality
all individuals: 2545
bin: 2.25e1
variant carriers: 11

GenotypeQuality
all individuals: 3087
bin: 7.75e1
variant carriers: 79

GenotypeQuality
all individuals: 27837
bin: 6.25e1
variant carriers: 70

GenotypeQuality
all individuals: 338
bin: 4.25e1
variant carriers: 27

GenotypeQuality
all individuals: 2068
bin: 8.25e1
variant carriers: 86

GenotypeQuality
all individuals: 534
bin: 5.75e1
variant carriers: 35

GenotypeQuality
all individuals: 1062
bin: 9.25e1
variant carriers: 59

GenotypeQuality
all individuals: 1332
bin: 3.25e1
variant carriers: 16

GenotypeQuality
all individuals: 872
bin: 8.75e1
variant carriers: 52

GenotypeQuality
all individuals: 378
bin: 4.75e1
variant carriers: 38

GenotypeQuality
all individuals: 8322
bin: 6.75e1
variant carriers: 73

GenotypeQuality
all individuals: 2750
bin: 7.25e1
variant carriers: 60

GenotypeQuality
all individuals: 6297
bin: 9.75e1
variant carriers: 3391

Other
type: Population
allele count: 26
allele frequency: 2.947845804988662e-2
allele num: 882
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 323
allele frequency: 4.981646565285789e-3
allele num: 64838
num of homozygotes: 1

African
type: Population
allele count: 38
allele frequency: 3.970741901776384e-3
allele num: 9570
num of homozygotes: 0

East Asian
type: Population
allele count: 4321
allele frequency: 5.116031257399952e-1
allele num: 8446
num of homozygotes: 1097

European (Finnish)
type: Population
allele count: 199
allele frequency: 3.050275904353157e-2
allele num: 6524
num of homozygotes: 7

South Asian
type: Population
allele count: 274
allele frequency: 1.672771672771673e-2
allele num: 16380
num of homozygotes: 5

Latino
type: Population
allele count: 25
allele frequency: 2.217098261794963e-3
allele num: 11276
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.225e0

MQRankSum
type: SiteQuality
SIO_000300: 1.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.32e-1

QD
type: SiteQuality
SIO_000300: 1.788e1

VQSLOD
type: SiteQuality
SIO_000300: 3.32e0

MQ
type: SiteQuality
SIO_000300: 5.948e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.996e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.3e0

DP
type: SiteQuality
SIO_000300: 1.700628e6

GenotypeQuality
all individuals: 1021
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3087
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2545
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1062
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2068
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27837
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1332
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 873
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 872
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 273
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6297
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 378
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8322
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11276
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.442002442002442e-4
allele num: 16380
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9570
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6524
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.711527190844876e-5
allele num: 64838
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8446
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.32e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.1e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.8e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.32e0

FS
type: SiteQuality
SIO_000300: 2.225e0

MQ
type: SiteQuality
SIO_000300: 5.948e1

QD
type: SiteQuality
SIO_000300: 1.788e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.3e0

DP
type: SiteQuality
SIO_000300: 1.700628e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.996e-1

GenotypeQuality
all individuals: 2068
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 273
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 872
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6297
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3087
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 378
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2750
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1021
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1332
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1062
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 873
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 609
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 534
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9570
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8446
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.542305438168975e-5
allele num: 64838
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6524
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16380
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11276
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.1e-1

FS
type: SiteQuality
SIO_000300: 2.225e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.3e0

VQSLOD
type: SiteQuality
SIO_000300: 3.32e0

MQ
type: SiteQuality
SIO_000300: 5.948e1

MQRankSum
type: SiteQuality
SIO_000300: 1.8e-1

DP
type: SiteQuality
SIO_000300: 1.700628e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.996e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.32e-1

QD
type: SiteQuality
SIO_000300: 1.788e1

GenotypeQuality
all individuals: 349
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3113
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8699
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 849
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2785
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1113
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1055
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1505
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 963
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30105
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2054
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.105751618024179e-5
allele num: 16378
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.172458490216653e-5
allele num: 64804
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11258
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8268
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6512
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.644067e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.11e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.9e-2

MQ
type: SiteQuality
SIO_000300: 5.968e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.38e-1

QD
type: SiteQuality
SIO_000300: 1.229e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.09e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.63e0

GenotypeQuality
all individuals: 2054
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1505
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 963
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 849
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 349
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1113
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30105
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3251
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2785
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3113
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 505
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1055
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8268
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9568
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.105751618024179e-5
allele num: 16378
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11258
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64804
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6512
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

VQSLOD
type: SiteQuality
SIO_000300: 2.63e0

MQRankSum
type: SiteQuality
SIO_000300: 2.11e-1

DP
type: SiteQuality
SIO_000300: 1.644067e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -5.38e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.09e-1

QD
type: SiteQuality
SIO_000300: 1.229e1

GenotypeQuality
all individuals: 834
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7537
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 527
bin: 5.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
all individuals: 1967
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variant carriers: 0

GenotypeQuality
all individuals: 2532
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 3229
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 188
bin: 5.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.219512195121951e-4
allele num: 8200
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16356
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11198
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.049979000419992e-4
allele num: 9524
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64538
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6508
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.932e1

MQRankSum
type: SiteQuality
SIO_000300: -1.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.51e0

FS
type: SiteQuality
SIO_000300: 5.211e0

QD
type: SiteQuality
SIO_000300: 1.58e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.531e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -7.923e-1

DP
type: SiteQuality
SIO_000300: 1.569653e6

GenotypeQuality
all individuals: 22654
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4800
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1063
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1943
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9486
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8136
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.552843256001739e-5
allele num: 64398
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11160
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16338
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.919e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.17e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.52e0

VQSLOD
type: SiteQuality
SIO_000300: 4.44e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.75e-1

QD
type: SiteQuality
SIO_000300: 1.033e1

DP
type: SiteQuality
SIO_000300: 1.508405e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.1e-2

GenotypeQuality
all individuals: 967
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 3221
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variant carriers: 1

GenotypeQuality
all individuals: 1923
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16334
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8118
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64342
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9482
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.968609865470852e-5
allele num: 11150
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.022e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.4e-2

DP
type: SiteQuality
SIO_000300: 1.504783e6

QD
type: SiteQuality
SIO_000300: 6.29e0

MQRankSum
type: SiteQuality
SIO_000300: -5.4e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.007e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 414
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variant carriers: 0

GenotypeQuality
all individuals: 158
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
all individuals: 1888
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5190
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18414
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9450
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16314
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8052
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.56011107990889e-5
allele num: 64098
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11074
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 7.05e-1

DP
type: SiteQuality
SIO_000300: 1.442046e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.9e0

MQ
type: SiteQuality
SIO_000300: 5.89e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.22e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.372e1

VQSLOD
type: SiteQuality
SIO_000300: -5.515e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

GenotypeQuality
all individuals: 2589
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3215
bin: 9.75e1
variant carriers: 7

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 5348
bin: 3.75e1
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GenotypeQuality
all individuals: 806
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6476
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8014
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.09439979988118e-4
allele num: 63962
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9448
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11060
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16302
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.426733e6

MQRankSum
type: SiteQuality
SIO_000300: 2.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 3.32e-1

FS
type: SiteQuality
SIO_000300: 1.3e0

VQSLOD
type: SiteQuality
SIO_000300: 2.7e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.237e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.08e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.848e0

GenotypeQuality
all individuals: 116
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variant carriers: 0

GenotypeQuality
all individuals: 17177
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1015
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 803
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.566563273490616e-5
allele num: 63834
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9418
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11036
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7968
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16290
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.110000000000001e-1

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.95e1

VQSLOD
type: SiteQuality
SIO_000300: 3.72e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.19e-1

DP
type: SiteQuality
SIO_000300: 1.424936e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 7.76e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9418
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 9.061254077564335e-5
allele num: 11036
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16290
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63834
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7968
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 3.72e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

MQRankSum
type: SiteQuality
SIO_000300: -2.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.110000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.424936e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 7.76e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.2e0

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: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 2431
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 801
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GenotypeQuality
all individuals: 2964
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9418
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.834780156068821e-5
allele num: 63818
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7976
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6470
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11036
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.0205e1

MQRankSum
type: SiteQuality
SIO_000300: -2.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -6.97e-1

MQ
type: SiteQuality
SIO_000300: 5.92e1

DP
type: SiteQuality
SIO_000300: 1.419827e6

VQSLOD
type: SiteQuality
SIO_000300: -1.176e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.091e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

QD
type: SiteQuality
SIO_000300: 1.115e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.05e-1

GenotypeQuality
all individuals: 3222
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3274
bin: 9.75e1
variant carriers: 75

GenotypeQuality
all individuals: 1118
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15723
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5642
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2619
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2097
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1008
bin: 9.25e1
variant carriers: 1

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 256
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 318
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2501
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1832
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 5247
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 5227
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 7
allele frequency: 4.300282589998772e-4
allele num: 16278
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.064056182166418e-4
allele num: 9398
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 19
allele frequency: 2.98216976393772e-4
allele num: 63712
num of homozygotes: 0

East Asian
type: Population
allele count: 51
allele frequency: 6.400602409638554e-3
allele num: 7968
num of homozygotes: 1

Other
type: Population
allele count: 1
allele frequency: 1.141552511415525e-3
allele num: 876
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.089256498818396e-5
allele num: 11002
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.546551190844417e-4
allele num: 6466
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.900000000000001e-3

QD
type: SiteQuality
SIO_000300: 1.386e1

MQRankSum
type: SiteQuality
SIO_000300: 2.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.67e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.45e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.6e-2

DP
type: SiteQuality
SIO_000300: 1.413813e6

FS
type: SiteQuality
SIO_000300: 1.063e0

GenotypeQuality
all individuals: 2401
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 394
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 1981
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1790
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variant carriers: 0

GenotypeQuality
all individuals: 993
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variant carriers: 0

GenotypeQuality
all individuals: 3187
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7822
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.583581427757015e-5
allele num: 63148
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10738
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16222
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9334
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.62e0

MQRankSum
type: SiteQuality
SIO_000300: -3.54e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.78e-1

DP
type: SiteQuality
SIO_000300: 1.389188e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

FS
type: SiteQuality
SIO_000300: 1.245e0

VQSLOD
type: SiteQuality
SIO_000300: 3.41e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.49e0

QD
type: SiteQuality
SIO_000300: 9.859999999999999e0

GenotypeQuality
all individuals: 6139
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1920
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variant carriers: 0

GenotypeQuality
all individuals: 1771
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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: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5632
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variant carriers: 0

GenotypeQuality
all individuals: 1237
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10600
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62652
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16120
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9242
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.296008294453084e-4
allele num: 7716
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: 6404
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.91e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.292e0

QD
type: SiteQuality
SIO_000300: 6.2e0

DP
type: SiteQuality
SIO_000300: 1.386034e6

VQSLOD
type: SiteQuality
SIO_000300: -1.465e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 502
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6139
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3191
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5632
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variant carriers: 0

GenotypeQuality
all individuals: 4459
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variant carriers: 0

GenotypeQuality
all individuals: 4760
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variant carriers: 0

GenotypeQuality
all individuals: 1237
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variant carriers: 0

GenotypeQuality
all individuals: 1169
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variant carriers: 0

GenotypeQuality
all individuals: 5907
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variant carriers: 0

GenotypeQuality
all individuals: 1771
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variant carriers: 0

GenotypeQuality
all individuals: 8276
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variant carriers: 0

GenotypeQuality
all individuals: 992
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variant carriers: 0

GenotypeQuality
all individuals: 779
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variant carriers: 0

GenotypeQuality
all individuals: 4157
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9242
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.296008294453084e-4
allele num: 7716
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6404
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10600
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62652
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16120
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.465e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.5e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.91e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.292e0

DP
type: SiteQuality
SIO_000300: 1.386034e6

QD
type: SiteQuality
SIO_000300: 6.2e0

GenotypeQuality
all individuals: 352
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1381
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variant carriers: 0

GenotypeQuality
all individuals: 3356
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variant carriers: 0

GenotypeQuality
all individuals: 276
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variant carriers: 0

GenotypeQuality
all individuals: 1985
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variant carriers: 0

GenotypeQuality
all individuals: 192
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variant carriers: 0

GenotypeQuality
all individuals: 4428
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variant carriers: 0

GenotypeQuality
all individuals: 730
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variant carriers: 0

GenotypeQuality
all individuals: 351
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variant carriers: 1

GenotypeQuality
all individuals: 248
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variant carriers: 0

GenotypeQuality
all individuals: 2504
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5544
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11186
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15854
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8430
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9436
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64246
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.054e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.73e-1

QD
type: SiteQuality
SIO_000300: 1.162e1

VQSLOD
type: SiteQuality
SIO_000300: 9.370000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.408163e6

FS
type: SiteQuality
SIO_000300: 3.01e0

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.48e-1

GenotypeQuality
all individuals: 1195
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33820
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variant carriers: 0

GenotypeQuality
all individuals: 130
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variant carriers: 0

GenotypeQuality
all individuals: 1266
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variant carriers: 0

GenotypeQuality
all individuals: 1985
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variant carriers: 1

GenotypeQuality
all individuals: 311
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variant carriers: 0

GenotypeQuality
all individuals: 236
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GenotypeQuality
all individuals: 1342
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GenotypeQuality
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GenotypeQuality
all individuals: 2899
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GenotypeQuality
all individuals: 1340
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 687
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11246
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.550435672423951e-5
allele num: 64498
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9478
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15904
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8464
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.438363e6

MQRankSum
type: SiteQuality
SIO_000300: -6.65e-1

QD
type: SiteQuality
SIO_000300: 1.488e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.917e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

VQSLOD
type: SiteQuality
SIO_000300: 5.07e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1322
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 329
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1982
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 40258
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variant carriers: 0

GenotypeQuality
all individuals: 339
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variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11300
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15990
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9506
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.544974198930878e-5
allele num: 64726
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8498
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -7.71e-1

DP
type: SiteQuality
SIO_000300: 1.490768e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

FS
type: SiteQuality
SIO_000300: 1.414e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.21e-1

QD
type: SiteQuality
SIO_000300: 2.941e1

VQSLOD
type: SiteQuality
SIO_000300: 3.51e-1

GenotypeQuality
all individuals: 5867
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
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GenotypeQuality
all individuals: 444
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GenotypeQuality
all individuals: 82
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GenotypeQuality
all individuals: 320
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GenotypeQuality
all individuals: 1334
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GenotypeQuality
all individuals: 879
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GenotypeQuality
all individuals: 40713
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GenotypeQuality
all individuals: 1986
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variant carriers: 1

GenotypeQuality
all individuals: 248
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variant carriers: 0

GenotypeQuality
all individuals: 78
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variant carriers: 0

GenotypeQuality
all individuals: 1338
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11314
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15994
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8502
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.543638665061283e-5
allele num: 64782
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.63e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.74e-1

QD
type: SiteQuality
SIO_000300: 1.723e1

MQ
type: SiteQuality
SIO_000300: 5.874e1

VQSLOD
type: SiteQuality
SIO_000300: -1.538e0

FS
type: SiteQuality
SIO_000300: 1.988e0

DP
type: SiteQuality
SIO_000300: 1.494664e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.51e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.34e-1

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

GenotypeQuality
all individuals: 219
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GenotypeQuality
all individuals: 243
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variant carriers: 0

GenotypeQuality
all individuals: 47
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GenotypeQuality
all individuals: 180
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variant carriers: 0

GenotypeQuality
all individuals: 438
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GenotypeQuality
all individuals: 241
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variant carriers: 0

GenotypeQuality
all individuals: 341
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variant carriers: 0

GenotypeQuality
all individuals: 45
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variant carriers: 0

GenotypeQuality
all individuals: 44532
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 230
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variant carriers: 0

GenotypeQuality
all individuals: 1364
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8572
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9580
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.532848953064165e-5
allele num: 65238
num of homozygotes: 0

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16168
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
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SIO_000300: 9.56e-1

ClippingRankSum
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SIO_000300: -1.38e0

FS
type: SiteQuality
SIO_000300: 2.173e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.897e0

DP
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SIO_000300: 1.541145e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

MQRankSum
type: SiteQuality
SIO_000300: -9.2e-2

QD
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SIO_000300: 1.258e1

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
all individuals: 1987
bin: 9.75e1
variant carriers: 1

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.531487380543984e-5
allele num: 65296
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.47e-1

FS
type: SiteQuality
SIO_000300: 1.253e0

MQRankSum
type: SiteQuality
SIO_000300: 3.54e-1

DP
type: SiteQuality
SIO_000300: 1.546331e6

ClippingRankSum
type: SiteQuality
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QD
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SIO_000300: 1.002e1

MQ
type: SiteQuality
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VQSLOD
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BaseQRankSum
type: SiteQuality
SIO_000300: -7.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
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variant carriers: 0

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

Latino
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allele frequency: 0.0e0
allele num: 11428
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65402
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9594
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.172077521293668e-5
allele num: 16202
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FS
type: SiteQuality
SIO_000300: 8.920999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.14e-1

BaseQRankSum
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SIO_000300: -2.392e0

VQSLOD
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SIO_000300: -1.422e0

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -7.83e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.53e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 1.550145e6

GenotypeQuality
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variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16262
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11448
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9612
num of homozygotes: 0

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

East Asian
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allele count: 1
allele frequency: 1.164415463437354e-4
allele num: 8588
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65460
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.415e0

ReadPosRankSum
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BaseQRankSum
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SIO_000300: -1.377e0

DP
type: SiteQuality
SIO_000300: 1.554308e6

FS
type: SiteQuality
SIO_000300: 2.034e0

MQ
type: SiteQuality
SIO_000300: 5.845e1

QD
type: SiteQuality
SIO_000300: 8.119999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.32e-1

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9614
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16278
num of homozygotes: 0

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11448
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

QD
type: SiteQuality
SIO_000300: 8.48e0

MQRankSum
type: SiteQuality
SIO_000300: -6.46e-1

FS
type: SiteQuality
SIO_000300: 2.139e0

DP
type: SiteQuality
SIO_000300: 1.555793e6

VQSLOD
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SIO_000300: -1.997e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.81e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.076e0

MQ
type: SiteQuality
SIO_000300: 5.879e1

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65508
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16294
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.730574471800244e-5
allele num: 11454
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
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DP
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BaseQRankSum
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QD
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VQSLOD
type: SiteQuality
SIO_000300: 1.41e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.699999999999999e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65616
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
allele num: 886
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16328
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.037129226301597e-4
allele num: 9642
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.9e-1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 8.609999999999999e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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South Asian
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European (Non-Finnish)
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East Asian
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allele frequency: 1.161710037174721e-4
allele num: 8608
num of homozygotes: 0

European (Finnish)
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Other
type: Population
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allele num: 886
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MQ
type: SiteQuality
SIO_000300: 5.903e1

BaseQRankSum
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VQSLOD
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QD
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DP
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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FS
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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num of homozygotes: 0

South Asian
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European (Finnish)
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East Asian
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Latino
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allele frequency: 8.692628650904033e-5
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European (Non-Finnish)
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num of homozygotes: 0

Other
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MQ
type: SiteQuality
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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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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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East Asian
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European (Non-Finnish)
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allele frequency: 6.080505898090721e-5
allele num: 65784
num of homozygotes: 0

African
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Latino
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 3.61e-1

MQ
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SIO_000300: 5.936e1

ReadPosRankSum
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SIO_000300: -4.49e-1

FS
type: SiteQuality
SIO_000300: 1.0645e1

MQRankSum
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DP
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VQSLOD
type: SiteQuality
SIO_000300: -1.298e0

QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

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

South Asian
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allele frequency: 0.0e0
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African
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allele frequency: 1.031353135313531e-4
allele num: 9696
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 3.03960606705371e-5
allele num: 65798
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

European (Finnish)
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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: 884
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.051e0

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

East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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South Asian
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Other
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European (Non-Finnish)
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allele count: 3
allele frequency: 4.559547692868867e-5
allele num: 65796
num of homozygotes: 0

African
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BaseQRankSum
type: SiteQuality
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QD
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InbreedingCoeff
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FS
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MQRankSum
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SIO_000300: -1.7e-2

ReadPosRankSum
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DP
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 1.95e0

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

African
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allele frequency: 0.0e0
allele num: 9686
num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 1.519849230956289e-5
allele num: 65796
num of homozygotes: 0

South Asian
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 5.73e0

DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 5.629999999999999e-1

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.867e1

FS
type: SiteQuality
SIO_000300: 1.1882e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.38e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
allele num: 9686
num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 65796
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11506
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East Asian
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allele frequency: 1.161710037174721e-4
allele num: 8608
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
SIO_000300: -5.4e-2

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 2.69e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.75e0

QD
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.275e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65784
num of homozygotes: 0

Other
type: Population
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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African
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Latino
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num of homozygotes: 0

East Asian
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allele num: 8606
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European (Finnish)
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allele num: 6606
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ClippingRankSum
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VQSLOD
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MQRankSum
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InbreedingCoeff
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DP
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MQ
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BaseQRankSum
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FS
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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num of homozygotes: 0

Other
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Latino
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European (Finnish)
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South Asian
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East Asian
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European (Non-Finnish)
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allele frequency: 1.520265134239411e-5
allele num: 65778
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MQ
type: SiteQuality
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FS
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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QD
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DP
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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num of homozygotes: 0

East Asian
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European (Finnish)
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Other
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African
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Latino
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European (Non-Finnish)
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InbreedingCoeff
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ReadPosRankSum
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FS
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ClippingRankSum
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MQ
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VQSLOD
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MQRankSum
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BaseQRankSum
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QD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 8.69414014953921e-5
allele num: 11502
num of homozygotes: 0

South Asian
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African
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allele frequency: 2.068680182043856e-4
allele num: 9668
num of homozygotes: 0

European (Non-Finnish)
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num of homozygotes: 0

East Asian
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European (Finnish)
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Other
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MQ
type: SiteQuality
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DP
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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FS
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QD
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VQSLOD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

European (Finnish)
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num of homozygotes: 0

East Asian
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Other
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allele num: 882
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65764
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.085686465433301e-5
allele num: 16432
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9668
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.73e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.77e-1

QD
type: SiteQuality
SIO_000300: 5.89e0

FS
type: SiteQuality
SIO_000300: 5.434e0

MQRankSum
type: SiteQuality
SIO_000300: -9.350000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.016e0

DP
type: SiteQuality
SIO_000300: 1.570983e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e-1

GenotypeQuality
all individuals: 6337
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1373
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1325
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16404
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9660
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.522209029743965e-5
allele num: 65694
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.876e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

MQRankSum
type: SiteQuality
SIO_000300: 5.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.734e0

QD
type: SiteQuality
SIO_000300: 1.205e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.599999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.57e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.3e-1

DP
type: SiteQuality
SIO_000300: 1.570715e6

GenotypeQuality
all individuals: 46456
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 331
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variant carriers: 0

GenotypeQuality
all individuals: 1325
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 1
allele frequency: 1.133786848072562e-3
allele num: 882
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.070393374741201e-4
allele num: 9660
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.21921482565228e-4
allele num: 16404
num of homozygotes: 0

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

Latino
type: Population
allele count: 25
allele frequency: 2.176183844011142e-3
allele num: 11488
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 41
allele frequency: 6.241057021950254e-4
allele num: 65694
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

QD
type: SiteQuality
SIO_000300: 1.205e1

VQSLOD
type: SiteQuality
SIO_000300: 3.57e0

FS
type: SiteQuality
SIO_000300: 1.876e0

MQRankSum
type: SiteQuality
SIO_000300: 5.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.734e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.599999999999999e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.3e-1

DP
type: SiteQuality
SIO_000300: 1.570715e6

GenotypeQuality
all individuals: 33
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 235
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variant carriers: 0

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

GenotypeQuality
all individuals: 1401
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GenotypeQuality
all individuals: 1985
bin: 9.75e1
variant carriers: 24

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.528864970645792e-5
allele num: 65408
num of homozygotes: 0

African
type: Population
allele count: 23
allele frequency: 2.400835073068893e-3
allele num: 9580
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16282
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.06e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.06e-1

DP
type: SiteQuality
SIO_000300: 1.55873e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.08e-1

QD
type: SiteQuality
SIO_000300: 1.23e1

VQSLOD
type: SiteQuality
SIO_000300: 4.1e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

FS
type: SiteQuality
SIO_000300: 1.373e0

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.200000000000001e-3

GenotypeQuality
all individuals: 34
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1969
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variant carriers: 6

GenotypeQuality
all individuals: 6187
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16264
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
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: 9564
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.182455388570903e-5
allele num: 65342
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -7.06e-1

FS
type: SiteQuality
SIO_000300: 2.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.311e0

DP
type: SiteQuality
SIO_000300: 1.557804e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.91e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.44e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.27e-1

QD
type: SiteQuality
SIO_000300: 1.091e1

GenotypeQuality
all individuals: 321
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 544
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variant carriers: 0

GenotypeQuality
all individuals: 3513
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 80
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GenotypeQuality
all individuals: 1967
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 41477
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GenotypeQuality
all individuals: 894
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11244
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8468
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.094059405940594e-5
allele num: 64640
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16054
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9442
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.26e-1

FS
type: SiteQuality
SIO_000300: 8.698e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.62e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.29e0

MQRankSum
type: SiteQuality
SIO_000300: 5.95e-1

DP
type: SiteQuality
SIO_000300: 1.51367e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

QD
type: SiteQuality
SIO_000300: 1.211e1

GenotypeQuality
all individuals: 544
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 80
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 157
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variant carriers: 0

GenotypeQuality
all individuals: 1967
bin: 9.75e1
variant carriers: 7

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.641089108910891e-5
allele num: 64640
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.557452863749555e-4
allele num: 11244
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16054
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9442
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8468
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.29e0

DP
type: SiteQuality
SIO_000300: 1.51367e6

FS
type: SiteQuality
SIO_000300: 8.698e0

MQRankSum
type: SiteQuality
SIO_000300: 5.95e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.39e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.62e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.26e-1

QD
type: SiteQuality
SIO_000300: 1.211e1

GenotypeQuality
all individuals: 937
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 890
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 318
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variant carriers: 0

GenotypeQuality
all individuals: 1230
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.54813140539369e-5
allele num: 64594
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6488
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9436
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.232082762059081e-5
allele num: 16046
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8466
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.896797153024912e-5
allele num: 11240
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.164e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.15e-1

FS
type: SiteQuality
SIO_000300: 7.163e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.083e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.631e0

VQSLOD
type: SiteQuality
SIO_000300: -1.98e-1

MQ
type: SiteQuality
SIO_000300: 5.936e1

DP
type: SiteQuality
SIO_000300: 1.513019e6

GenotypeQuality
all individuals: 40280
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1291
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GenotypeQuality
all individuals: 4394
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GenotypeQuality
all individuals: 41
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GenotypeQuality
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GenotypeQuality
all individuals: 229
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GenotypeQuality
all individuals: 587
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GenotypeQuality
all individuals: 282
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GenotypeQuality
all individuals: 211
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9402
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11188
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15984
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.55265037418874e-5
allele num: 64406
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.54e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.113e0

MQRankSum
type: SiteQuality
SIO_000300: 3.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.354e0

QD
type: SiteQuality
SIO_000300: 1.216e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 3.059e0

VQSLOD
type: SiteQuality
SIO_000300: 8.159999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.492053e6

MQ
type: SiteQuality
SIO_000300: 5.977e1

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

GenotypeQuality
all individuals: 1299
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variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 373
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GenotypeQuality
all individuals: 1142
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variant carriers: 0

GenotypeQuality
all individuals: 49
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variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 577
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1481
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5555
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 433
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1958
bin: 9.75e1
variant carriers: 1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9386
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11162
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.555064846204087e-5
allele num: 64306
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8416
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15952
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -9.409999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.82e-1

FS
type: SiteQuality
SIO_000300: 2.384e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

QD
type: SiteQuality
SIO_000300: 1.294e1

VQSLOD
type: SiteQuality
SIO_000300: 7.28e-1

DP
type: SiteQuality
SIO_000300: 1.482829e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.93e-1

GenotypeQuality
all individuals: 306
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 953
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 664
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 408
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1136
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 571
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1111
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1017
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1985
bin: 9.75e1
variant carriers: 31

GenotypeQuality
all individuals: 5212
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 8.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.1936022917164e-4
allele num: 8378
num of homozygotes: 0

Latino
type: Population
allele count: 7
allele frequency: 6.302899333693499e-4
allele num: 11106
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.068832834544677e-4
allele num: 9356
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6430
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.301991429291656e-5
allele num: 15868
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 21
allele frequency: 3.277972027972028e-4
allele num: 64064
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.71e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.7e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.02e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.42e0

DP
type: SiteQuality
SIO_000300: 1.463632e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

FS
type: SiteQuality
SIO_000300: 2.245e0

QD
type: SiteQuality
SIO_000300: 1.574e1

MQRankSum
type: SiteQuality
SIO_000300: -2.2e-1

GenotypeQuality
all individuals: 61
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 445
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7787
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 385
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 319
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 541
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1042
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 304
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15778
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8310
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.57035175879397e-5
allele num: 63680
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11014
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9286
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6374
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -5.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.12e-1

FS
type: SiteQuality
SIO_000300: 3.641e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.88e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

QD
type: SiteQuality
SIO_000300: 1.345e1

VQSLOD
type: SiteQuality
SIO_000300: 5.45e-1

DP
type: SiteQuality
SIO_000300: 1.397801e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.67e0