16-85839330-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85839330
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 85839330
    reference: chr 16
allele count: 1
allele frequency: 8.244838730954422e-6
allele num: 121288
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000253452
  ensembl transcript: ENST00000253452
  gene symbol: COX4I1
  hgvsc: ENST00000253452.2:c.242-9T>C
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000456452
  ensembl transcript: ENST00000564544
  gene symbol: COX4I1
  hgvsc: ENST00000564544.1:c.*39-9T>C
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457513
  ensembl transcript: ENST00000562336
  gene symbol: COX4I1
  hgvsc: ENST00000562336.1:c.242-9T>C
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000562929
  gene symbol: COX4I1
  hgvsc: ENST00000562929.1:n.41-23T>C
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455030
  ensembl transcript: ENST00000568794
  gene symbol: COX4I1
  hgvsc: ENST00000568794.1:c.242-9T>C
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457015
  ensembl transcript: ENST00000561569
  gene symbol: COX4I1
  hgvsc: ENST00000561569.1:c.242-9T>C
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000454714
  ensembl transcript: ENST00000564903
  gene symbol: COX4I1
  hgvsc: ENST00000564903.1:c.242-9T>C
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000564648
  gene symbol: COX4I1
  hgvsc: ENST00000564648.1:n.865T>C
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000570123
  gene symbol: COX4I1
  hgvsc: ENST00000570123.1:n.533T>C
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000569997
  gene symbol: COX4I1
  hgvsc: ENST00000569997.1:n.2668T>C
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455301
  ensembl transcript: ENST00000566405
  gene symbol: COX4I1
  hgvsc: ENST00000566405.1:c.128-9T>C
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000568339
  gene symbol: COX4I1
  hgvsc: ENST00000568339.1:n.993T>C
  variant of: http://identifiers.org/hgnc/2265
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6646
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8641
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6058
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7616
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8501
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4736
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8219
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: T
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum

16-85839337-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85839337
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 85839337
    reference: chr 16
allele count: 1
allele frequency: 8.24279991427488e-6
allele num: 121318
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455301
  ensembl transcript: ENST00000566405
  gene symbol: COX4I1
  hgvsc: ENST00000566405.1:c.128-2A>G
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000562929
  gene symbol: COX4I1
  hgvsc: ENST00000562929.1:n.41-16A>G
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000564648
  gene symbol: COX4I1
  hgvsc: ENST00000564648.1:n.872A>G
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000570123
  gene symbol: COX4I1
  hgvsc: ENST00000570123.1:n.540A>G
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457015
  ensembl transcript: ENST00000561569
  gene symbol: COX4I1
  hgvsc: ENST00000561569.1:c.242-2A>G
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000456452
  ensembl transcript: ENST00000564544
  gene symbol: COX4I1
  hgvsc: ENST00000564544.1:c.*39-2A>G
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000568339
  gene symbol: COX4I1
  hgvsc: ENST00000568339.1:n.1000A>G
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000253452
  ensembl transcript: ENST00000253452
  gene symbol: COX4I1
  hgvsc: ENST00000253452.2:c.242-2A>G
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000454714
  ensembl transcript: ENST00000564903
  gene symbol: COX4I1
  hgvsc: ENST00000564903.1:c.242-2A>G
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000569997
  gene symbol: COX4I1
  hgvsc: ENST00000569997.1:n.2675A>G
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455030
  ensembl transcript: ENST00000568794
  gene symbol: COX4I1
  hgvsc: ENST00000568794.1:c.242-2A>G
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457513
  ensembl transcript: ENST00000562336
  gene symbol: COX4I1
  hgvsc: ENST00000562336.1:c.242-2A>G
  variant of: http://identifiers.org/hgnc/2265
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4736
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8223
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6649
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6001
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8534
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7688
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8644
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.242-2A>G
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD

16-85839339-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85839339
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 85839339
    reference: chr 16
allele count: 1
allele frequency: 8.242528148233626e-6
allele num: 121322
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000568339
  gene symbol: COX4I1
  hgvsc: ENST00000568339.1:n.1002T>C
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457015
  ensembl transcript: ENST00000561569
  gene symbol: COX4I1
  hgvsc: ENST00000561569.1:c.242T>C
  hgvsp: ENSP00000457015.1:p.Leu81Ser
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000456452
  ensembl transcript: ENST00000564544
  gene symbol: COX4I1
  hgvsc: ENST00000564544.1:c.*39T>C
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000569997
  gene symbol: COX4I1
  hgvsc: ENST00000569997.1:n.2677T>C
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000253452
  ensembl transcript: ENST00000253452
  gene symbol: COX4I1
  hgvsc: ENST00000253452.2:c.242T>C
  hgvsp: ENSP00000253452.2:p.Leu81Ser
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000562929
  gene symbol: COX4I1
  hgvsc: ENST00000562929.1:n.41-14T>C
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455301
  ensembl transcript: ENST00000566405
  gene symbol: COX4I1
  hgvsc: ENST00000566405.1:c.128T>C
  hgvsp: ENSP00000455301.1:p.Leu43Ser
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455030
  ensembl transcript: ENST00000568794
  gene symbol: COX4I1
  hgvsc: ENST00000568794.1:c.242T>C
  hgvsp: ENSP00000455030.1:p.Leu81Ser
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457513
  ensembl transcript: ENST00000562336
  gene symbol: COX4I1
  hgvsc: ENST00000562336.1:c.242T>C
  hgvsp: ENSP00000457513.1:p.Leu81Ser
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000564648
  gene symbol: COX4I1
  hgvsc: ENST00000564648.1:n.874T>C
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000454714
  ensembl transcript: ENST00000564903
  gene symbol: COX4I1
  hgvsc: ENST00000564903.1:c.242T>C
  hgvsp: ENSP00000454714.1:p.Leu81Ser
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000570123
  gene symbol: COX4I1
  hgvsc: ENST00000570123.1:n.542T>C
  variant of: http://identifiers.org/hgnc/2265
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4736
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6651
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6002
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8222
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8644
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8539
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu81Ser
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

16-85839340-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85839340
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 85839340
    reference: chr 16
allele count: 1
allele frequency: 8.241984669908513e-6
allele num: 121330
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457513
  ensembl transcript: ENST00000562336
  gene symbol: COX4I1
  hgvsc: ENST00000562336.1:c.243G>A
  hgvsp: ENST00000562336.1:c.243G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000569997
  gene symbol: COX4I1
  hgvsc: ENST00000569997.1:n.2678G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000568339
  gene symbol: COX4I1
  hgvsc: ENST00000568339.1:n.1003G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000564648
  gene symbol: COX4I1
  hgvsc: ENST00000564648.1:n.875G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455301
  ensembl transcript: ENST00000566405
  gene symbol: COX4I1
  hgvsc: ENST00000566405.1:c.129G>A
  hgvsp: ENST00000566405.1:c.129G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000253452
  ensembl transcript: ENST00000253452
  gene symbol: COX4I1
  hgvsc: ENST00000253452.2:c.243G>A
  hgvsp: ENST00000253452.2:c.243G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000456452
  ensembl transcript: ENST00000564544
  gene symbol: COX4I1
  hgvsc: ENST00000564544.1:c.*40G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000454714
  ensembl transcript: ENST00000564903
  gene symbol: COX4I1
  hgvsc: ENST00000564903.1:c.243G>A
  hgvsp: ENST00000564903.1:c.243G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457015
  ensembl transcript: ENST00000561569
  gene symbol: COX4I1
  hgvsc: ENST00000561569.1:c.243G>A
  hgvsp: ENST00000561569.1:c.243G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000562929
  gene symbol: COX4I1
  hgvsc: ENST00000562929.1:n.41-13G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455030
  ensembl transcript: ENST00000568794
  gene symbol: COX4I1
  hgvsc: ENST00000568794.1:c.243G>A
  hgvsp: ENST00000568794.1:c.243G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000570123
  gene symbol: COX4I1
  hgvsc: ENST00000570123.1:n.543G>A
  variant of: http://identifiers.org/hgnc/2265
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7700
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6651
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4736
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5999
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8223
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8643
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3221
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.243G>A
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP

16-85839344-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85839344
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 85839344
    reference: chr 16
allele count: 1
allele frequency: 8.241577108195424e-6
allele num: 121336
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457513
  ensembl transcript: ENST00000562336
  gene symbol: COX4I1
  hgvsc: ENST00000562336.1:c.247C>T
  hgvsp: ENSP00000457513.1:p.Arg83Cys
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000454714
  ensembl transcript: ENST00000564903
  gene symbol: COX4I1
  hgvsc: ENST00000564903.1:c.247C>T
  hgvsp: ENSP00000454714.1:p.Arg83Cys
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455301
  ensembl transcript: ENST00000566405
  gene symbol: COX4I1
  hgvsc: ENST00000566405.1:c.133C>T
  hgvsp: ENSP00000455301.1:p.Arg45Cys
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000569997
  gene symbol: COX4I1
  hgvsc: ENST00000569997.1:n.2682C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455030
  ensembl transcript: ENST00000568794
  gene symbol: COX4I1
  hgvsc: ENST00000568794.1:c.247C>T
  hgvsp: ENSP00000455030.1:p.Arg83Cys
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000562929
  gene symbol: COX4I1
  hgvsc: ENST00000562929.1:n.41-9C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000253452
  ensembl transcript: ENST00000253452
  gene symbol: COX4I1
  hgvsc: ENST00000253452.2:c.247C>T
  hgvsp: ENSP00000253452.2:p.Arg83Cys
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000456452
  ensembl transcript: ENST00000564544
  gene symbol: COX4I1
  hgvsc: ENST00000564544.1:c.*44C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000568339
  gene symbol: COX4I1
  hgvsc: ENST00000568339.1:n.1007C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457015
  ensembl transcript: ENST00000561569
  gene symbol: COX4I1
  hgvsc: ENST00000561569.1:c.247C>T
  hgvsp: ENSP00000457015.1:p.Arg83Cys
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000564648
  gene symbol: COX4I1
  hgvsc: ENST00000564648.1:n.879C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000570123
  gene symbol: COX4I1
  hgvsc: ENST00000570123.1:n.547C>T
  variant of: http://identifiers.org/hgnc/2265
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5988
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8552
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4736
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6651
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7707
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8225
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg83Cys
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ

16-85839345-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85839345
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 85839345
    reference: chr 16
allele count: 5
allele frequency: 4.120788554097712e-5
allele num: 121336
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455301
  ensembl transcript: ENST00000566405
  gene symbol: COX4I1
  hgvsc: ENST00000566405.1:c.134G>A
  hgvsp: ENSP00000455301.1:p.Arg45His
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000568339
  gene symbol: COX4I1
  hgvsc: ENST00000568339.1:n.1008G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000456452
  ensembl transcript: ENST00000564544
  gene symbol: COX4I1
  hgvsc: ENST00000564544.1:c.*45G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457513
  ensembl transcript: ENST00000562336
  gene symbol: COX4I1
  hgvsc: ENST00000562336.1:c.248G>A
  hgvsp: ENSP00000457513.1:p.Arg83His
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457015
  ensembl transcript: ENST00000561569
  gene symbol: COX4I1
  hgvsc: ENST00000561569.1:c.248G>A
  hgvsp: ENSP00000457015.1:p.Arg83His
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455030
  ensembl transcript: ENST00000568794
  gene symbol: COX4I1
  hgvsc: ENST00000568794.1:c.248G>A
  hgvsp: ENSP00000455030.1:p.Arg83His
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000454714
  ensembl transcript: ENST00000564903
  gene symbol: COX4I1
  hgvsc: ENST00000564903.1:c.248G>A
  hgvsp: ENSP00000454714.1:p.Arg83His
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000564648
  gene symbol: COX4I1
  hgvsc: ENST00000564648.1:n.880G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000569997
  gene symbol: COX4I1
  hgvsc: ENST00000569997.1:n.2683G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000570123
  gene symbol: COX4I1
  hgvsc: ENST00000570123.1:n.548G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000562929
  gene symbol: COX4I1
  hgvsc: ENST00000562929.1:n.41-8G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000253452
  ensembl transcript: ENST00000253452
  gene symbol: COX4I1
  hgvsc: ENST00000253452.2:c.248G>A
  hgvsp: ENSP00000253452.2:p.Arg83His
  variant of: http://identifiers.org/hgnc/2265
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5987
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8552
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7708
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8225
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4737
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8648
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6654
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg83His
num of homozygotes: 1
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

16-85839347-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85839347
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 85839347
    reference: chr 16
allele count: 1
allele frequency: 8.240626287597857e-6
allele num: 121350
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455301
  ensembl transcript: ENST00000566405
  gene symbol: COX4I1
  hgvsc: ENST00000566405.1:c.136A>G
  hgvsp: ENSP00000455301.1:p.Ile46Val
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000454714
  ensembl transcript: ENST00000564903
  gene symbol: COX4I1
  hgvsc: ENST00000564903.1:c.250A>G
  hgvsp: ENSP00000454714.1:p.Ile84Val
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000570123
  gene symbol: COX4I1
  hgvsc: ENST00000570123.1:n.550A>G
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000569997
  gene symbol: COX4I1
  hgvsc: ENST00000569997.1:n.2685A>G
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457015
  ensembl transcript: ENST00000561569
  gene symbol: COX4I1
  hgvsc: ENST00000561569.1:c.250A>G
  hgvsp: ENSP00000457015.1:p.Ile84Val
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000568339
  gene symbol: COX4I1
  hgvsc: ENST00000568339.1:n.1010A>G
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455030
  ensembl transcript: ENST00000568794
  gene symbol: COX4I1
  hgvsc: ENST00000568794.1:c.250A>G
  hgvsp: ENSP00000455030.1:p.Ile84Val
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000456452
  ensembl transcript: ENST00000564544
  gene symbol: COX4I1
  hgvsc: ENST00000564544.1:c.*47A>G
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000564648
  gene symbol: COX4I1
  hgvsc: ENST00000564648.1:n.882A>G
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000562929
  gene symbol: COX4I1
  hgvsc: ENST00000562929.1:n.41-6A>G
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457513
  ensembl transcript: ENST00000562336
  gene symbol: COX4I1
  hgvsc: ENST00000562336.1:c.250A>G
  hgvsp: ENSP00000457513.1:p.Ile84Val
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000253452
  ensembl transcript: ENST00000253452
  gene symbol: COX4I1
  hgvsc: ENST00000253452.2:c.250A>G
  hgvsp: ENSP00000253452.2:p.Ile84Val
  variant of: http://identifiers.org/hgnc/2265
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8224
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7721
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8645
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8548
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4738
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6655
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile84Val
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: A
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

16-85839382-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85839382
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 85839382
    reference: chr 16
allele count: 3
allele frequency: 2.471536142096851e-5
allele num: 121382
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455301
  ensembl transcript: ENST00000566405
  gene symbol: COX4I1
  hgvsc: ENST00000566405.1:c.171G>A
  hgvsp: ENST00000566405.1:c.171G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457015
  ensembl transcript: ENST00000561569
  gene symbol: COX4I1
  hgvsc: ENST00000561569.1:c.285G>A
  hgvsp: ENST00000561569.1:c.285G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000562929
  gene symbol: COX4I1
  hgvsc: ENST00000562929.1:n.70G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000456452
  ensembl transcript: ENST00000564544
  gene symbol: COX4I1
  hgvsc: ENST00000564544.1:c.*82G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455030
  ensembl transcript: ENST00000568794
  gene symbol: COX4I1
  hgvsc: ENST00000568794.1:c.285G>A
  hgvsp: ENST00000568794.1:c.285G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000568339
  gene symbol: COX4I1
  hgvsc: ENST00000568339.1:n.1045G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000569997
  gene symbol: COX4I1
  hgvsc: ENST00000569997.1:n.2720G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000454714
  ensembl transcript: ENST00000564903
  gene symbol: COX4I1
  hgvsc: ENST00000564903.1:c.285G>A
  hgvsp: ENST00000564903.1:c.285G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000253452
  ensembl transcript: ENST00000253452
  gene symbol: COX4I1
  hgvsc: ENST00000253452.2:c.285G>A
  hgvsp: ENST00000253452.2:c.285G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457513
  ensembl transcript: ENST00000562336
  gene symbol: COX4I1
  hgvsc: ENST00000562336.1:c.285G>A
  hgvsp: ENST00000562336.1:c.285G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000564648
  gene symbol: COX4I1
  hgvsc: ENST00000564648.1:n.917G>A
  variant of: http://identifiers.org/hgnc/2265
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4740
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8226
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7733
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5970
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8547
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6662
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8652
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Arg95Arg
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

16-85839386-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85839386
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 85839386
    reference: chr 16
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455030
  ensembl transcript: ENST00000568794
  gene symbol: COX4I1
  hgvsc: ENST00000568794.1:c.289T>C
  hgvsp: ENSP00000455030.1:p.Ser97Pro
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000568339
  gene symbol: COX4I1
  hgvsc: ENST00000568339.1:n.1049T>C
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000562929
  gene symbol: COX4I1
  hgvsc: ENST00000562929.1:n.74T>C
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457513
  ensembl transcript: ENST00000562336
  gene symbol: COX4I1
  hgvsc: ENST00000562336.1:c.289T>C
  hgvsp: ENSP00000457513.1:p.Ser97Pro
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455301
  ensembl transcript: ENST00000566405
  gene symbol: COX4I1
  hgvsc: ENST00000566405.1:c.175T>C
  hgvsp: ENSP00000455301.1:p.Ser59Pro
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000456452
  ensembl transcript: ENST00000564544
  gene symbol: COX4I1
  hgvsc: ENST00000564544.1:c.*86T>C
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000569997
  gene symbol: COX4I1
  hgvsc: ENST00000569997.1:n.2724T>C
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000253452
  ensembl transcript: ENST00000253452
  gene symbol: COX4I1
  hgvsc: ENST00000253452.2:c.289T>C
  hgvsp: ENSP00000253452.2:p.Ser97Pro
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457015
  ensembl transcript: ENST00000561569
  gene symbol: COX4I1
  hgvsc: ENST00000561569.1:c.289T>C
  hgvsp: ENSP00000457015.1:p.Ser97Pro
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000454714
  ensembl transcript: ENST00000564903
  gene symbol: COX4I1
  hgvsc: ENST00000564903.1:c.289T>C
  hgvsp: ENSP00000454714.1:p.Ser97Pro
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000564648
  gene symbol: COX4I1
  hgvsc: ENST00000564648.1:n.921T>C
  variant of: http://identifiers.org/hgnc/2265
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6661
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4740
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8653
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7733
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5970
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8227
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8548
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser97Pro
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

16-85839387-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85839387
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 85839387
    reference: chr 16
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457513
  ensembl transcript: ENST00000562336
  gene symbol: COX4I1
  hgvsc: ENST00000562336.1:c.290C>G
  hgvsp: ENSP00000457513.1:p.Ser97Trp
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455301
  ensembl transcript: ENST00000566405
  gene symbol: COX4I1
  hgvsc: ENST00000566405.1:c.176C>G
  hgvsp: ENSP00000455301.1:p.Ser59Trp
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000564648
  gene symbol: COX4I1
  hgvsc: ENST00000564648.1:n.922C>G
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000253452
  ensembl transcript: ENST00000253452
  gene symbol: COX4I1
  hgvsc: ENST00000253452.2:c.290C>G
  hgvsp: ENSP00000253452.2:p.Ser97Trp
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000562929
  gene symbol: COX4I1
  hgvsc: ENST00000562929.1:n.75C>G
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000569997
  gene symbol: COX4I1
  hgvsc: ENST00000569997.1:n.2725C>G
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455030
  ensembl transcript: ENST00000568794
  gene symbol: COX4I1
  hgvsc: ENST00000568794.1:c.290C>G
  hgvsp: ENSP00000455030.1:p.Ser97Trp
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000456452
  ensembl transcript: ENST00000564544
  gene symbol: COX4I1
  hgvsc: ENST00000564544.1:c.*87C>G
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000454714
  ensembl transcript: ENST00000564903
  gene symbol: COX4I1
  hgvsc: ENST00000564903.1:c.290C>G
  hgvsp: ENSP00000454714.1:p.Ser97Trp
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457015
  ensembl transcript: ENST00000561569
  gene symbol: COX4I1
  hgvsc: ENST00000561569.1:c.290C>G
  hgvsp: ENSP00000457015.1:p.Ser97Trp
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000568339
  gene symbol: COX4I1
  hgvsc: ENST00000568339.1:n.1050C>G
  variant of: http://identifiers.org/hgnc/2265
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6662
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8654
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7731
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4740
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5964
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8549
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8228
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser97Trp
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: QD

16-85839387-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85839387
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 85839387
    reference: chr 16
allele count: 3
allele frequency: 2.471536142096851e-5
allele num: 121382
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457513
  ensembl transcript: ENST00000562336
  gene symbol: COX4I1
  hgvsc: ENST00000562336.1:c.290C>T
  hgvsp: ENSP00000457513.1:p.Ser97Leu
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000454714
  ensembl transcript: ENST00000564903
  gene symbol: COX4I1
  hgvsc: ENST00000564903.1:c.290C>T
  hgvsp: ENSP00000454714.1:p.Ser97Leu
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455301
  ensembl transcript: ENST00000566405
  gene symbol: COX4I1
  hgvsc: ENST00000566405.1:c.176C>T
  hgvsp: ENSP00000455301.1:p.Ser59Leu
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000253452
  ensembl transcript: ENST00000253452
  gene symbol: COX4I1
  hgvsc: ENST00000253452.2:c.290C>T
  hgvsp: ENSP00000253452.2:p.Ser97Leu
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455030
  ensembl transcript: ENST00000568794
  gene symbol: COX4I1
  hgvsc: ENST00000568794.1:c.290C>T
  hgvsp: ENSP00000455030.1:p.Ser97Leu
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000456452
  ensembl transcript: ENST00000564544
  gene symbol: COX4I1
  hgvsc: ENST00000564544.1:c.*87C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457015
  ensembl transcript: ENST00000561569
  gene symbol: COX4I1
  hgvsc: ENST00000561569.1:c.290C>T
  hgvsp: ENSP00000457015.1:p.Ser97Leu
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000564648
  gene symbol: COX4I1
  hgvsc: ENST00000564648.1:n.922C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000569997
  gene symbol: COX4I1
  hgvsc: ENST00000569997.1:n.2725C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000562929
  gene symbol: COX4I1
  hgvsc: ENST00000562929.1:n.75C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000568339
  gene symbol: COX4I1
  hgvsc: ENST00000568339.1:n.1050C>T
  variant of: http://identifiers.org/hgnc/2265
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6662
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5964
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7731
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8654
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8228
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8549
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4740
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ser97Leu
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

16-85839388-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85839388
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 85839388
    reference: chr 16
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000454714
  ensembl transcript: ENST00000564903
  gene symbol: COX4I1
  hgvsc: ENST00000564903.1:c.291G>A
  hgvsp: ENST00000564903.1:c.291G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455030
  ensembl transcript: ENST00000568794
  gene symbol: COX4I1
  hgvsc: ENST00000568794.1:c.291G>A
  hgvsp: ENST00000568794.1:c.291G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000568339
  gene symbol: COX4I1
  hgvsc: ENST00000568339.1:n.1051G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455301
  ensembl transcript: ENST00000566405
  gene symbol: COX4I1
  hgvsc: ENST00000566405.1:c.177G>A
  hgvsp: ENST00000566405.1:c.177G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457513
  ensembl transcript: ENST00000562336
  gene symbol: COX4I1
  hgvsc: ENST00000562336.1:c.291G>A
  hgvsp: ENST00000562336.1:c.291G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000456452
  ensembl transcript: ENST00000564544
  gene symbol: COX4I1
  hgvsc: ENST00000564544.1:c.*88G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000253452
  ensembl transcript: ENST00000253452
  gene symbol: COX4I1
  hgvsc: ENST00000253452.2:c.291G>A
  hgvsp: ENST00000253452.2:c.291G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457015
  ensembl transcript: ENST00000561569
  gene symbol: COX4I1
  hgvsc: ENST00000561569.1:c.291G>A
  hgvsp: ENST00000561569.1:c.291G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000564648
  gene symbol: COX4I1
  hgvsc: ENST00000564648.1:n.923G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000562929
  gene symbol: COX4I1
  hgvsc: ENST00000562929.1:n.76G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000569997
  gene symbol: COX4I1
  hgvsc: ENST00000569997.1:n.2726G>A
  variant of: http://identifiers.org/hgnc/2265
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8652
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8548
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8228
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4740
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5964
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6662
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7732
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser97Ser
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

16-85839391-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85839391
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 85839391
    reference: chr 16
allele count: 13
allele frequency: 1.070981348447901e-4
allele num: 121384
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000562929
  gene symbol: COX4I1
  hgvsc: ENST00000562929.1:n.79C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000569997
  gene symbol: COX4I1
  hgvsc: ENST00000569997.1:n.2729C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455030
  ensembl transcript: ENST00000568794
  gene symbol: COX4I1
  hgvsc: ENST00000568794.1:c.294C>T
  hgvsp: ENST00000568794.1:c.294C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457015
  ensembl transcript: ENST00000561569
  gene symbol: COX4I1
  hgvsc: ENST00000561569.1:c.294C>T
  hgvsp: ENST00000561569.1:c.294C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000253452
  ensembl transcript: ENST00000253452
  gene symbol: COX4I1
  hgvsc: ENST00000253452.2:c.294C>T
  hgvsp: ENST00000253452.2:c.294C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455301
  ensembl transcript: ENST00000566405
  gene symbol: COX4I1
  hgvsc: ENST00000566405.1:c.180C>T
  hgvsp: ENST00000566405.1:c.180C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457513
  ensembl transcript: ENST00000562336
  gene symbol: COX4I1
  hgvsc: ENST00000562336.1:c.294C>T
  hgvsp: ENST00000562336.1:c.294C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000564648
  gene symbol: COX4I1
  hgvsc: ENST00000564648.1:n.926C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000568339
  gene symbol: COX4I1
  hgvsc: ENST00000568339.1:n.1054C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000454714
  ensembl transcript: ENST00000564903
  gene symbol: COX4I1
  hgvsc: ENST00000564903.1:c.294C>T
  hgvsp: ENST00000564903.1:c.294C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000456452
  ensembl transcript: ENST00000564544
  gene symbol: COX4I1
  hgvsc: ENST00000564544.1:c.*91C>T
  variant of: http://identifiers.org/hgnc/2265
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3222
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5961
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8652
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8540
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6662
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8227
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4741
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2130
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7734
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn98Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: African
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ

16-85839402-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85839402
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 85839402
    reference: chr 16
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000456452
  ensembl transcript: ENST00000564544
  gene symbol: COX4I1
  hgvsc: ENST00000564544.1:c.*102C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000562929
  gene symbol: COX4I1
  hgvsc: ENST00000562929.1:n.90C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455301
  ensembl transcript: ENST00000566405
  gene symbol: COX4I1
  hgvsc: ENST00000566405.1:c.191C>T
  hgvsp: ENSP00000455301.1:p.Thr64Met
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457513
  ensembl transcript: ENST00000562336
  gene symbol: COX4I1
  hgvsc: ENST00000562336.1:c.305C>T
  hgvsp: ENSP00000457513.1:p.Thr102Met
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455030
  ensembl transcript: ENST00000568794
  gene symbol: COX4I1
  hgvsc: ENST00000568794.1:c.305C>T
  hgvsp: ENSP00000455030.1:p.Thr102Met
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000454714
  ensembl transcript: ENST00000564903
  gene symbol: COX4I1
  hgvsc: ENST00000564903.1:c.305C>T
  hgvsp: ENSP00000454714.1:p.Thr102Met
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000253452
  ensembl transcript: ENST00000253452
  gene symbol: COX4I1
  hgvsc: ENST00000253452.2:c.305C>T
  hgvsp: ENSP00000253452.2:p.Thr102Met
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000569997
  gene symbol: COX4I1
  hgvsc: ENST00000569997.1:n.2740C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457015
  ensembl transcript: ENST00000561569
  gene symbol: COX4I1
  hgvsc: ENST00000561569.1:c.305C>T
  hgvsp: ENSP00000457015.1:p.Thr102Met
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000568339
  gene symbol: COX4I1
  hgvsc: ENST00000568339.1:n.1065C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000564648
  gene symbol: COX4I1
  hgvsc: ENST00000564648.1:n.937C>T
  variant of: http://identifiers.org/hgnc/2265
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5962
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8655
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6661
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4740
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8547
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7726
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8226
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr102Met
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff

16-85839403-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85839403
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 85839403
    reference: chr 16
allele count: 3
allele frequency: 2.471536142096851e-5
allele num: 121382
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457513
  ensembl transcript: ENST00000562336
  gene symbol: COX4I1
  hgvsc: ENST00000562336.1:c.306G>A
  hgvsp: ENST00000562336.1:c.306G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000562929
  gene symbol: COX4I1
  hgvsc: ENST00000562929.1:n.91G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000569997
  gene symbol: COX4I1
  hgvsc: ENST00000569997.1:n.2741G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455030
  ensembl transcript: ENST00000568794
  gene symbol: COX4I1
  hgvsc: ENST00000568794.1:c.306G>A
  hgvsp: ENST00000568794.1:c.306G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457015
  ensembl transcript: ENST00000561569
  gene symbol: COX4I1
  hgvsc: ENST00000561569.1:c.306G>A
  hgvsp: ENST00000561569.1:c.306G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000253452
  ensembl transcript: ENST00000253452
  gene symbol: COX4I1
  hgvsc: ENST00000253452.2:c.306G>A
  hgvsp: ENST00000253452.2:c.306G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455301
  ensembl transcript: ENST00000566405
  gene symbol: COX4I1
  hgvsc: ENST00000566405.1:c.192G>A
  hgvsp: ENST00000566405.1:c.192G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000456452
  ensembl transcript: ENST00000564544
  gene symbol: COX4I1
  hgvsc: ENST00000564544.1:c.*103G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000568339
  gene symbol: COX4I1
  hgvsc: ENST00000568339.1:n.1066G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000454714
  ensembl transcript: ENST00000564903
  gene symbol: COX4I1
  hgvsc: ENST00000564903.1:c.306G>A
  hgvsp: ENST00000564903.1:c.306G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000564648
  gene symbol: COX4I1
  hgvsc: ENST00000564648.1:n.938G>A
  variant of: http://identifiers.org/hgnc/2265
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4740
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8226
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6663
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8653
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8543
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7729
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3222
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5960
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2130
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr102Thr
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

16-85839406-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85839406
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 85839406
    reference: chr 16
allele count: 2
allele frequency: 1.647717910693689e-5
allele num: 121380
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457513
  ensembl transcript: ENST00000562336
  gene symbol: COX4I1
  hgvsc: ENST00000562336.1:c.309T>A
  hgvsp: ENST00000562336.1:c.309T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000456452
  ensembl transcript: ENST00000564544
  gene symbol: COX4I1
  hgvsc: ENST00000564544.1:c.*106T>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000454714
  ensembl transcript: ENST00000564903
  gene symbol: COX4I1
  hgvsc: ENST00000564903.1:c.309T>A
  hgvsp: ENST00000564903.1:c.309T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000562929
  gene symbol: COX4I1
  hgvsc: ENST00000562929.1:n.94T>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000564648
  gene symbol: COX4I1
  hgvsc: ENST00000564648.1:n.941T>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455301
  ensembl transcript: ENST00000566405
  gene symbol: COX4I1
  hgvsc: ENST00000566405.1:c.195T>A
  hgvsp: ENST00000566405.1:c.195T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455030
  ensembl transcript: ENST00000568794
  gene symbol: COX4I1
  hgvsc: ENST00000568794.1:c.309T>A
  hgvsp: ENST00000568794.1:c.309T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000568339
  gene symbol: COX4I1
  hgvsc: ENST00000568339.1:n.1069T>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000253452
  ensembl transcript: ENST00000253452
  gene symbol: COX4I1
  hgvsc: ENST00000253452.2:c.309T>A
  hgvsp: ENST00000253452.2:c.309T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457015
  ensembl transcript: ENST00000561569
  gene symbol: COX4I1
  hgvsc: ENST00000561569.1:c.309T>A
  hgvsp: ENST00000561569.1:c.309T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000569997
  gene symbol: COX4I1
  hgvsc: ENST00000569997.1:n.2744T>A
  variant of: http://identifiers.org/hgnc/2265
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5965
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6661
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8653
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4741
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8542
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7732
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8228
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val103Val
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS

16-85839412-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85839412
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 85839412
    reference: chr 16
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000564648
  gene symbol: COX4I1
  hgvsc: ENST00000564648.1:n.947C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457513
  ensembl transcript: ENST00000562336
  gene symbol: COX4I1
  hgvsc: ENST00000562336.1:c.315C>T
  hgvsp: ENST00000562336.1:c.315C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455301
  ensembl transcript: ENST00000566405
  gene symbol: COX4I1
  hgvsc: ENST00000566405.1:c.201C>T
  hgvsp: ENST00000566405.1:c.201C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457015
  ensembl transcript: ENST00000561569
  gene symbol: COX4I1
  hgvsc: ENST00000561569.1:c.315C>T
  hgvsp: ENST00000561569.1:c.315C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000568339
  gene symbol: COX4I1
  hgvsc: ENST00000568339.1:n.1075C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000562929
  gene symbol: COX4I1
  hgvsc: ENST00000562929.1:n.100C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000456452
  ensembl transcript: ENST00000564544
  gene symbol: COX4I1
  hgvsc: ENST00000564544.1:c.*112C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000454714
  ensembl transcript: ENST00000564903
  gene symbol: COX4I1
  hgvsc: ENST00000564903.1:c.315C>T
  hgvsp: ENST00000564903.1:c.315C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000253452
  ensembl transcript: ENST00000253452
  gene symbol: COX4I1
  hgvsc: ENST00000253452.2:c.315C>T
  hgvsp: ENST00000253452.2:c.315C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455030
  ensembl transcript: ENST00000568794
  gene symbol: COX4I1
  hgvsc: ENST00000568794.1:c.315C>T
  hgvsp: ENST00000568794.1:c.315C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000569997
  gene symbol: COX4I1
  hgvsc: ENST00000569997.1:n.2750C>T
  variant of: http://identifiers.org/hgnc/2265
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8546
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7737
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8234
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5951
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6661
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4741
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8653
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly105Gly
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: Latino
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

16-85839413-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85839413
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 85839413
    reference: chr 16
allele count: 2
allele frequency: 1.647772211969417e-5
allele num: 121376
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457513
  ensembl transcript: ENST00000562336
  gene symbol: COX4I1
  hgvsc: ENST00000562336.1:c.316G>A
  hgvsp: ENSP00000457513.1:p.Gly106Ser
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000564648
  gene symbol: COX4I1
  hgvsc: ENST00000564648.1:n.948G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457015
  ensembl transcript: ENST00000561569
  gene symbol: COX4I1
  hgvsc: ENST00000561569.1:c.316G>A
  hgvsp: ENSP00000457015.1:p.Gly106Ser
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000568339
  gene symbol: COX4I1
  hgvsc: ENST00000568339.1:n.1076G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455030
  ensembl transcript: ENST00000568794
  gene symbol: COX4I1
  hgvsc: ENST00000568794.1:c.316G>A
  hgvsp: ENSP00000455030.1:p.Gly106Ser
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000562929
  gene symbol: COX4I1
  hgvsc: ENST00000562929.1:n.101G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455301
  ensembl transcript: ENST00000566405
  gene symbol: COX4I1
  hgvsc: ENST00000566405.1:c.202G>A
  hgvsp: ENSP00000455301.1:p.Gly68Ser
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000454714
  ensembl transcript: ENST00000564903
  gene symbol: COX4I1
  hgvsc: ENST00000564903.1:c.316G>A
  hgvsp: ENSP00000454714.1:p.Gly106Ser
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000253452
  ensembl transcript: ENST00000253452
  gene symbol: COX4I1
  hgvsc: ENST00000253452.2:c.316G>A
  hgvsp: ENSP00000253452.2:p.Gly106Ser
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000569997
  gene symbol: COX4I1
  hgvsc: ENST00000569997.1:n.2751G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000456452
  ensembl transcript: ENST00000564544
  gene symbol: COX4I1
  hgvsc: ENST00000564544.1:c.*113G>A
  variant of: http://identifiers.org/hgnc/2265
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4743
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8233
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8545
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5950
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8653
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7738
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6661
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3220
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly106Ser
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

16-85839415-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85839415
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 85839415
    reference: chr 16
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455301
  ensembl transcript: ENST00000566405
  gene symbol: COX4I1
  hgvsc: ENST00000566405.1:c.204T>G
  hgvsp: ENST00000566405.1:c.204T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000253452
  ensembl transcript: ENST00000253452
  gene symbol: COX4I1
  hgvsc: ENST00000253452.2:c.318T>G
  hgvsp: ENST00000253452.2:c.318T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000456452
  ensembl transcript: ENST00000564544
  gene symbol: COX4I1
  hgvsc: ENST00000564544.1:c.*115T>G
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000454714
  ensembl transcript: ENST00000564903
  gene symbol: COX4I1
  hgvsc: ENST00000564903.1:c.318T>G
  hgvsp: ENST00000564903.1:c.318T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000568339
  gene symbol: COX4I1
  hgvsc: ENST00000568339.1:n.1078T>G
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455030
  ensembl transcript: ENST00000568794
  gene symbol: COX4I1
  hgvsc: ENST00000568794.1:c.318T>G
  hgvsp: ENST00000568794.1:c.318T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457513
  ensembl transcript: ENST00000562336
  gene symbol: COX4I1
  hgvsc: ENST00000562336.1:c.318T>G
  hgvsp: ENST00000562336.1:c.318T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457015
  ensembl transcript: ENST00000561569
  gene symbol: COX4I1
  hgvsc: ENST00000561569.1:c.318T>G
  hgvsp: ENST00000561569.1:c.318T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000562929
  gene symbol: COX4I1
  hgvsc: ENST00000562929.1:n.103T>G
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000569997
  gene symbol: COX4I1
  hgvsc: ENST00000569997.1:n.2753T>G
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000564648
  gene symbol: COX4I1
  hgvsc: ENST00000564648.1:n.950T>G
  variant of: http://identifiers.org/hgnc/2265
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8553
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8232
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6660
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7736
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8651
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4741
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5950
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly106Gly
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: T
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

16-85839419-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85839419
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 85839419
    reference: chr 16
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457015
  ensembl transcript: ENST00000561569
  gene symbol: COX4I1
  hgvsc: ENST00000561569.1:c.322A>G
  hgvsp: ENSP00000457015.1:p.Met108Val
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000564648
  gene symbol: COX4I1
  hgvsc: ENST00000564648.1:n.954A>G
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457513
  ensembl transcript: ENST00000562336
  gene symbol: COX4I1
  hgvsc: ENST00000562336.1:c.322A>G
  hgvsp: ENSP00000457513.1:p.Met108Val
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000454714
  ensembl transcript: ENST00000564903
  gene symbol: COX4I1
  hgvsc: ENST00000564903.1:c.322A>G
  hgvsp: ENSP00000454714.1:p.Met108Val
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455030
  ensembl transcript: ENST00000568794
  gene symbol: COX4I1
  hgvsc: ENST00000568794.1:c.322A>G
  hgvsp: ENSP00000455030.1:p.Met108Val
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000253452
  ensembl transcript: ENST00000253452
  gene symbol: COX4I1
  hgvsc: ENST00000253452.2:c.322A>G
  hgvsp: ENSP00000253452.2:p.Met108Val
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000568339
  gene symbol: COX4I1
  hgvsc: ENST00000568339.1:n.1082A>G
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000569997
  gene symbol: COX4I1
  hgvsc: ENST00000569997.1:n.2757A>G
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455301
  ensembl transcript: ENST00000566405
  gene symbol: COX4I1
  hgvsc: ENST00000566405.1:c.208A>G
  hgvsp: ENSP00000455301.1:p.Met70Val
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000562929
  gene symbol: COX4I1
  hgvsc: ENST00000562929.1:n.107A>G
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000456452
  ensembl transcript: ENST00000564544
  gene symbol: COX4I1
  hgvsc: ENST00000564544.1:c.*119A>G
  variant of: http://identifiers.org/hgnc/2265
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8232
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5956
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7740
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4741
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8550
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8653
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6660
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met108Val
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum

16-85839428-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85839428
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 85839428
    reference: chr 16
allele count: 2
allele frequency: 1.647609318878308e-5
allele num: 121388
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000562929
  gene symbol: COX4I1
  hgvsc: ENST00000562929.1:n.116A>G
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000454714
  ensembl transcript: ENST00000564903
  gene symbol: COX4I1
  hgvsc: ENST00000564903.1:c.331A>G
  hgvsp: ENSP00000454714.1:p.Ile111Val
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455030
  ensembl transcript: ENST00000568794
  gene symbol: COX4I1
  hgvsc: ENST00000568794.1:c.331A>G
  hgvsp: ENSP00000455030.1:p.Ile111Val
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000456452
  ensembl transcript: ENST00000564544
  gene symbol: COX4I1
  hgvsc: ENST00000564544.1:c.*128A>G
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000568339
  gene symbol: COX4I1
  hgvsc: ENST00000568339.1:n.1091A>G
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457015
  ensembl transcript: ENST00000561569
  gene symbol: COX4I1
  hgvsc: ENST00000561569.1:c.331A>G
  hgvsp: ENSP00000457015.1:p.Ile111Val
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455301
  ensembl transcript: ENST00000566405
  gene symbol: COX4I1
  hgvsc: ENST00000566405.1:c.217A>G
  hgvsp: ENSP00000455301.1:p.Ile73Val
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000564648
  gene symbol: COX4I1
  hgvsc: ENST00000564648.1:n.963A>G
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000253452
  ensembl transcript: ENST00000253452
  gene symbol: COX4I1
  hgvsc: ENST00000253452.2:c.331A>G
  hgvsp: ENSP00000253452.2:p.Ile111Val
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457513
  ensembl transcript: ENST00000562336
  gene symbol: COX4I1
  hgvsc: ENST00000562336.1:c.331A>G
  hgvsp: ENSP00000457513.1:p.Ile111Val
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000569997
  gene symbol: COX4I1
  hgvsc: ENST00000569997.1:n.2766A>G
  variant of: http://identifiers.org/hgnc/2265
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5958
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8653
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8231
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8553
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4741
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6660
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7738
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2130
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ile111Val
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

16-85839430-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85839430
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 85839430
    reference: chr 16
allele count: 2
allele frequency: 1.647690761397901e-5
allele num: 121382
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000568339
  gene symbol: COX4I1
  hgvsc: ENST00000568339.1:n.1093C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000253452
  ensembl transcript: ENST00000253452
  gene symbol: COX4I1
  hgvsc: ENST00000253452.2:c.333C>T
  hgvsp: ENST00000253452.2:c.333C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455301
  ensembl transcript: ENST00000566405
  gene symbol: COX4I1
  hgvsc: ENST00000566405.1:c.219C>T
  hgvsp: ENST00000566405.1:c.219C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455030
  ensembl transcript: ENST00000568794
  gene symbol: COX4I1
  hgvsc: ENST00000568794.1:c.333C>T
  hgvsp: ENST00000568794.1:c.333C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000569997
  gene symbol: COX4I1
  hgvsc: ENST00000569997.1:n.2768C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000562929
  gene symbol: COX4I1
  hgvsc: ENST00000562929.1:n.118C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000564648
  gene symbol: COX4I1
  hgvsc: ENST00000564648.1:n.965C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000456452
  ensembl transcript: ENST00000564544
  gene symbol: COX4I1
  hgvsc: ENST00000564544.1:c.*130C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457015
  ensembl transcript: ENST00000561569
  gene symbol: COX4I1
  hgvsc: ENST00000561569.1:c.333C>T
  hgvsp: ENST00000561569.1:c.333C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457513
  ensembl transcript: ENST00000562336
  gene symbol: COX4I1
  hgvsc: ENST00000562336.1:c.333C>T
  hgvsp: ENST00000562336.1:c.333C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000454714
  ensembl transcript: ENST00000564903
  gene symbol: COX4I1
  hgvsc: ENST00000564903.1:c.333C>T
  hgvsp: ENST00000564903.1:c.333C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2265
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4741
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5956
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8554
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6660
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8652
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8233
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7737
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ile111Ile
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

16-85839431-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85839431
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 85839431
    reference: chr 16
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455301
  ensembl transcript: ENST00000566405
  gene symbol: COX4I1
  hgvsc: ENST00000566405.1:c.220G>A
  hgvsp: ENSP00000455301.1:p.Gly74Ser
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000564648
  gene symbol: COX4I1
  hgvsc: ENST00000564648.1:n.966G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457513
  ensembl transcript: ENST00000562336
  gene symbol: COX4I1
  hgvsc: ENST00000562336.1:c.334G>A
  hgvsp: ENSP00000457513.1:p.Gly112Ser
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000454714
  ensembl transcript: ENST00000564903
  gene symbol: COX4I1
  hgvsc: ENST00000564903.1:c.334G>A
  hgvsp: ENSP00000454714.1:p.Gly112Ser
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457015
  ensembl transcript: ENST00000561569
  gene symbol: COX4I1
  hgvsc: ENST00000561569.1:c.334G>A
  hgvsp: ENSP00000457015.1:p.Gly112Ser
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000569997
  gene symbol: COX4I1
  hgvsc: ENST00000569997.1:n.2769G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455030
  ensembl transcript: ENST00000568794
  gene symbol: COX4I1
  hgvsc: ENST00000568794.1:c.334G>A
  hgvsp: ENSP00000455030.1:p.Gly112Ser
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000253452
  ensembl transcript: ENST00000253452
  gene symbol: COX4I1
  hgvsc: ENST00000253452.2:c.334G>A
  hgvsp: ENSP00000253452.2:p.Gly112Ser
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000568339
  gene symbol: COX4I1
  hgvsc: ENST00000568339.1:n.1094G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000456452
  ensembl transcript: ENST00000564544
  gene symbol: COX4I1
  hgvsc: ENST00000564544.1:c.*131G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000562929
  gene symbol: COX4I1
  hgvsc: ENST00000562929.1:n.119G>A
  variant of: http://identifiers.org/hgnc/2265
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4741
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8557
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8650
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6661
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7734
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5954
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8233
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly112Ser
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP

16-85839431-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85839431
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 85839431
    reference: chr 16
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000456452
  ensembl transcript: ENST00000564544
  gene symbol: COX4I1
  hgvsc: ENST00000564544.1:c.*131G>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000562929
  gene symbol: COX4I1
  hgvsc: ENST00000562929.1:n.119G>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455301
  ensembl transcript: ENST00000566405
  gene symbol: COX4I1
  hgvsc: ENST00000566405.1:c.220G>T
  hgvsp: ENSP00000455301.1:p.Gly74Cys
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455030
  ensembl transcript: ENST00000568794
  gene symbol: COX4I1
  hgvsc: ENST00000568794.1:c.334G>T
  hgvsp: ENSP00000455030.1:p.Gly112Cys
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457513
  ensembl transcript: ENST00000562336
  gene symbol: COX4I1
  hgvsc: ENST00000562336.1:c.334G>T
  hgvsp: ENSP00000457513.1:p.Gly112Cys
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000253452
  ensembl transcript: ENST00000253452
  gene symbol: COX4I1
  hgvsc: ENST00000253452.2:c.334G>T
  hgvsp: ENSP00000253452.2:p.Gly112Cys
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000454714
  ensembl transcript: ENST00000564903
  gene symbol: COX4I1
  hgvsc: ENST00000564903.1:c.334G>T
  hgvsp: ENSP00000454714.1:p.Gly112Cys
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457015
  ensembl transcript: ENST00000561569
  gene symbol: COX4I1
  hgvsc: ENST00000561569.1:c.334G>T
  hgvsp: ENSP00000457015.1:p.Gly112Cys
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000569997
  gene symbol: COX4I1
  hgvsc: ENST00000569997.1:n.2769G>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000568339
  gene symbol: COX4I1
  hgvsc: ENST00000568339.1:n.1094G>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000564648
  gene symbol: COX4I1
  hgvsc: ENST00000564648.1:n.966G>T
  variant of: http://identifiers.org/hgnc/2265
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5954
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2131
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8650
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6661
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4741
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7734
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8557
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8233
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly112Cys
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

16-85839439-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85839439
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 85839439
    reference: chr 16
allele count: 2
allele frequency: 1.647717910693689e-5
allele num: 121380
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000253452
  ensembl transcript: ENST00000253452
  gene symbol: COX4I1
  hgvsc: ENST00000253452.2:c.342C>T
  hgvsp: ENST00000253452.2:c.342C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000564648
  gene symbol: COX4I1
  hgvsc: ENST00000564648.1:n.974C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455030
  ensembl transcript: ENST00000568794
  gene symbol: COX4I1
  hgvsc: ENST00000568794.1:c.342C>T
  hgvsp: ENST00000568794.1:c.342C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455301
  ensembl transcript: ENST00000566405
  gene symbol: COX4I1
  hgvsc: ENST00000566405.1:c.228C>T
  hgvsp: ENST00000566405.1:c.228C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457015
  ensembl transcript: ENST00000561569
  gene symbol: COX4I1
  hgvsc: ENST00000561569.1:c.342C>T
  hgvsp: ENST00000561569.1:c.342C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000456452
  ensembl transcript: ENST00000564544
  gene symbol: COX4I1
  hgvsc: ENST00000564544.1:c.*139C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000454714
  ensembl transcript: ENST00000564903
  gene symbol: COX4I1
  hgvsc: ENST00000564903.1:c.342C>T
  hgvsp: ENST00000564903.1:c.342C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457513
  ensembl transcript: ENST00000562336
  gene symbol: COX4I1
  hgvsc: ENST00000562336.1:c.342C>T
  hgvsp: ENST00000562336.1:c.342C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000568339
  gene symbol: COX4I1
  hgvsc: ENST00000568339.1:n.1102C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000569997
  gene symbol: COX4I1
  hgvsc: ENST00000569997.1:n.2777C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000562929
  gene symbol: COX4I1
  hgvsc: ENST00000562929.1:n.127C>T
  variant of: http://identifiers.org/hgnc/2265
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8552
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5955
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7739
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8647
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6661
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8236
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4741
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr114Thr
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ

16-85839441-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85839441
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 85839441
    reference: chr 16
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000253452
  ensembl transcript: ENST00000253452
  gene symbol: COX4I1
  hgvsc: ENST00000253452.2:c.344C>T
  hgvsp: ENSP00000253452.2:p.Ala115Val
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455030
  ensembl transcript: ENST00000568794
  gene symbol: COX4I1
  hgvsc: ENST00000568794.1:c.344C>T
  hgvsp: ENSP00000455030.1:p.Ala115Val
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000568339
  gene symbol: COX4I1
  hgvsc: ENST00000568339.1:n.1104C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000564648
  gene symbol: COX4I1
  hgvsc: ENST00000564648.1:n.976C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457015
  ensembl transcript: ENST00000561569
  gene symbol: COX4I1
  hgvsc: ENST00000561569.1:c.344C>T
  hgvsp: ENSP00000457015.1:p.Ala115Val
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457513
  ensembl transcript: ENST00000562336
  gene symbol: COX4I1
  hgvsc: ENST00000562336.1:c.344C>T
  hgvsp: ENSP00000457513.1:p.Ala115Val
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000569997
  gene symbol: COX4I1
  hgvsc: ENST00000569997.1:n.2779C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000454714
  ensembl transcript: ENST00000564903
  gene symbol: COX4I1
  hgvsc: ENST00000564903.1:c.344C>T
  hgvsp: ENSP00000454714.1:p.Ala115Val
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455301
  ensembl transcript: ENST00000566405
  gene symbol: COX4I1
  hgvsc: ENST00000566405.1:c.230C>T
  hgvsp: ENSP00000455301.1:p.Ala77Val
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000456452
  ensembl transcript: ENST00000564544
  gene symbol: COX4I1
  hgvsc: ENST00000564544.1:c.*141C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000562929
  gene symbol: COX4I1
  hgvsc: ENST00000562929.1:n.129C>T
  variant of: http://identifiers.org/hgnc/2265
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4741
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6662
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5955
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8647
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7733
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8553
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8234
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala115Val
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

16-85839442-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85839442
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 85839442
    reference: chr 16
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455301
  ensembl transcript: ENST00000566405
  gene symbol: COX4I1
  hgvsc: ENST00000566405.1:c.231G>A
  hgvsp: ENST00000566405.1:c.231G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457015
  ensembl transcript: ENST00000561569
  gene symbol: COX4I1
  hgvsc: ENST00000561569.1:c.345G>A
  hgvsp: ENST00000561569.1:c.345G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000456452
  ensembl transcript: ENST00000564544
  gene symbol: COX4I1
  hgvsc: ENST00000564544.1:c.*142G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457513
  ensembl transcript: ENST00000562336
  gene symbol: COX4I1
  hgvsc: ENST00000562336.1:c.345G>A
  hgvsp: ENST00000562336.1:c.345G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000568339
  gene symbol: COX4I1
  hgvsc: ENST00000568339.1:n.1105G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000569997
  gene symbol: COX4I1
  hgvsc: ENST00000569997.1:n.2780G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000564648
  gene symbol: COX4I1
  hgvsc: ENST00000564648.1:n.977G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000454714
  ensembl transcript: ENST00000564903
  gene symbol: COX4I1
  hgvsc: ENST00000564903.1:c.345G>A
  hgvsp: ENST00000564903.1:c.345G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000562929
  gene symbol: COX4I1
  hgvsc: ENST00000562929.1:n.130G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455030
  ensembl transcript: ENST00000568794
  gene symbol: COX4I1
  hgvsc: ENST00000568794.1:c.345G>A
  hgvsp: ENST00000568794.1:c.345G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000253452
  ensembl transcript: ENST00000253452
  gene symbol: COX4I1
  hgvsc: ENST00000253452.2:c.345G>A
  hgvsp: ENST00000253452.2:c.345G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2265
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8235
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8552
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8646
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7733
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4741
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6662
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5955
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ala115Ala
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP

16-85839443-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85839443
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 85839443
    reference: chr 16
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457513
  ensembl transcript: ENST00000562336
  gene symbol: COX4I1
  hgvsc: ENST00000562336.1:c.346C>T
  hgvsp: ENSP00000457513.1:p.Leu116Phe
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000568339
  gene symbol: COX4I1
  hgvsc: ENST00000568339.1:n.1106C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000562929
  gene symbol: COX4I1
  hgvsc: ENST00000562929.1:n.131C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000253452
  ensembl transcript: ENST00000253452
  gene symbol: COX4I1
  hgvsc: ENST00000253452.2:c.346C>T
  hgvsp: ENSP00000253452.2:p.Leu116Phe
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000454714
  ensembl transcript: ENST00000564903
  gene symbol: COX4I1
  hgvsc: ENST00000564903.1:c.346C>T
  hgvsp: ENSP00000454714.1:p.Leu116Phe
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457015
  ensembl transcript: ENST00000561569
  gene symbol: COX4I1
  hgvsc: ENST00000561569.1:c.346C>T
  hgvsp: ENSP00000457015.1:p.Leu116Phe
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455030
  ensembl transcript: ENST00000568794
  gene symbol: COX4I1
  hgvsc: ENST00000568794.1:c.346C>T
  hgvsp: ENSP00000455030.1:p.Leu116Phe
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455301
  ensembl transcript: ENST00000566405
  gene symbol: COX4I1
  hgvsc: ENST00000566405.1:c.232C>T
  hgvsp: ENSP00000455301.1:p.Leu78Phe
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000564648
  gene symbol: COX4I1
  hgvsc: ENST00000564648.1:n.978C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000456452
  ensembl transcript: ENST00000564544
  gene symbol: COX4I1
  hgvsc: ENST00000564544.1:c.*143C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000569997
  gene symbol: COX4I1
  hgvsc: ENST00000569997.1:n.2781C>T
  variant of: http://identifiers.org/hgnc/2265
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5956
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6660
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4741
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7728
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8648
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8555
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8233
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Leu116Phe
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

16-85839445-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85839445
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 85839445
    reference: chr 16
allele count: 4
allele frequency: 3.295381522795802e-5
allele num: 121382
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457513
  ensembl transcript: ENST00000562336
  gene symbol: COX4I1
  hgvsc: ENST00000562336.1:c.348C>T
  hgvsp: ENST00000562336.1:c.348C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000569997
  gene symbol: COX4I1
  hgvsc: ENST00000569997.1:n.2783C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455030
  ensembl transcript: ENST00000568794
  gene symbol: COX4I1
  hgvsc: ENST00000568794.1:c.348C>T
  hgvsp: ENST00000568794.1:c.348C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000454714
  ensembl transcript: ENST00000564903
  gene symbol: COX4I1
  hgvsc: ENST00000564903.1:c.348C>T
  hgvsp: ENST00000564903.1:c.348C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000564648
  gene symbol: COX4I1
  hgvsc: ENST00000564648.1:n.980C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000568339
  gene symbol: COX4I1
  hgvsc: ENST00000568339.1:n.1108C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000562929
  gene symbol: COX4I1
  hgvsc: ENST00000562929.1:n.133C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000253452
  ensembl transcript: ENST00000253452
  gene symbol: COX4I1
  hgvsc: ENST00000253452.2:c.348C>T
  hgvsp: ENST00000253452.2:c.348C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455301
  ensembl transcript: ENST00000566405
  gene symbol: COX4I1
  hgvsc: ENST00000566405.1:c.234C>T
  hgvsp: ENST00000566405.1:c.234C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000456452
  ensembl transcript: ENST00000564544
  gene symbol: COX4I1
  hgvsc: ENST00000564544.1:c.*145C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457015
  ensembl transcript: ENST00000561569
  gene symbol: COX4I1
  hgvsc: ENST00000561569.1:c.348C>T
  hgvsp: ENST00000561569.1:c.348C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2265
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4740
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8555
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8650
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6660
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7727
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8231
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5947
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu116Leu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

16-85839446-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85839446
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 85839446
    reference: chr 16
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000564648
  gene symbol: COX4I1
  hgvsc: ENST00000564648.1:n.981G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000454714
  ensembl transcript: ENST00000564903
  gene symbol: COX4I1
  hgvsc: ENST00000564903.1:c.349G>A
  hgvsp: ENSP00000454714.1:p.Val117Ile
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000253452
  ensembl transcript: ENST00000253452
  gene symbol: COX4I1
  hgvsc: ENST00000253452.2:c.349G>A
  hgvsp: ENSP00000253452.2:p.Val117Ile
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000569997
  gene symbol: COX4I1
  hgvsc: ENST00000569997.1:n.2784G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000456452
  ensembl transcript: ENST00000564544
  gene symbol: COX4I1
  hgvsc: ENST00000564544.1:c.*146G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455301
  ensembl transcript: ENST00000566405
  gene symbol: COX4I1
  hgvsc: ENST00000566405.1:c.235G>A
  hgvsp: ENSP00000455301.1:p.Val79Ile
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457015
  ensembl transcript: ENST00000561569
  gene symbol: COX4I1
  hgvsc: ENST00000561569.1:c.349G>A
  hgvsp: ENSP00000457015.1:p.Val117Ile
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455030
  ensembl transcript: ENST00000568794
  gene symbol: COX4I1
  hgvsc: ENST00000568794.1:c.349G>A
  hgvsp: ENSP00000455030.1:p.Val117Ile
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457513
  ensembl transcript: ENST00000562336
  gene symbol: COX4I1
  hgvsc: ENST00000562336.1:c.349G>A
  hgvsp: ENSP00000457513.1:p.Val117Ile
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000568339
  gene symbol: COX4I1
  hgvsc: ENST00000568339.1:n.1109G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000562929
  gene symbol: COX4I1
  hgvsc: ENST00000562929.1:n.134G>A
  variant of: http://identifiers.org/hgnc/2265
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6660
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4740
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5943
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8650
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8230
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7733
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8550
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val117Ile
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ

16-85839450-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85839450
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 85839450
    reference: chr 16
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000456452
  ensembl transcript: ENST00000564544
  gene symbol: COX4I1
  hgvsc: ENST00000564544.1:c.*150T>C
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455030
  ensembl transcript: ENST00000568794
  gene symbol: COX4I1
  hgvsc: ENST00000568794.1:c.353T>C
  hgvsp: ENSP00000455030.1:p.Ile118Thr
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000564648
  gene symbol: COX4I1
  hgvsc: ENST00000564648.1:n.985T>C
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000454714
  ensembl transcript: ENST00000564903
  gene symbol: COX4I1
  hgvsc: ENST00000564903.1:c.353T>C
  hgvsp: ENSP00000454714.1:p.Ile118Thr
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000568339
  gene symbol: COX4I1
  hgvsc: ENST00000568339.1:n.1113T>C
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455301
  ensembl transcript: ENST00000566405
  gene symbol: COX4I1
  hgvsc: ENST00000566405.1:c.239T>C
  hgvsp: ENSP00000455301.1:p.Ile80Thr
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000253452
  ensembl transcript: ENST00000253452
  gene symbol: COX4I1
  hgvsc: ENST00000253452.2:c.353T>C
  hgvsp: ENSP00000253452.2:p.Ile118Thr
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457015
  ensembl transcript: ENST00000561569
  gene symbol: COX4I1
  hgvsc: ENST00000561569.1:c.353T>C
  hgvsp: ENSP00000457015.1:p.Ile118Thr
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457513
  ensembl transcript: ENST00000562336
  gene symbol: COX4I1
  hgvsc: ENST00000562336.1:c.353T>C
  hgvsp: ENSP00000457513.1:p.Ile118Thr
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000562929
  gene symbol: COX4I1
  hgvsc: ENST00000562929.1:n.138T>C
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000569997
  gene symbol: COX4I1
  hgvsc: ENST00000569997.1:n.2788T>C
  variant of: http://identifiers.org/hgnc/2265
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4740
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8649
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8229
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7728
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8549
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5949
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6661
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile118Thr
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: QD

16-85839452-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85839452
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 85839452
    reference: chr 16
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000568339
  gene symbol: COX4I1
  hgvsc: ENST00000568339.1:n.1115A>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457513
  ensembl transcript: ENST00000562336
  gene symbol: COX4I1
  hgvsc: ENST00000562336.1:c.355A>T
  hgvsp: ENSP00000457513.1:p.Met119Leu
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000253452
  ensembl transcript: ENST00000253452
  gene symbol: COX4I1
  hgvsc: ENST00000253452.2:c.355A>T
  hgvsp: ENSP00000253452.2:p.Met119Leu
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000569997
  gene symbol: COX4I1
  hgvsc: ENST00000569997.1:n.2790A>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000562929
  gene symbol: COX4I1
  hgvsc: ENST00000562929.1:n.140A>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000564648
  gene symbol: COX4I1
  hgvsc: ENST00000564648.1:n.987A>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455030
  ensembl transcript: ENST00000568794
  gene symbol: COX4I1
  hgvsc: ENST00000568794.1:c.355A>T
  hgvsp: ENSP00000455030.1:p.Met119Leu
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457015
  ensembl transcript: ENST00000561569
  gene symbol: COX4I1
  hgvsc: ENST00000561569.1:c.355A>T
  hgvsp: ENSP00000457015.1:p.Met119Leu
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455301
  ensembl transcript: ENST00000566405
  gene symbol: COX4I1
  hgvsc: ENST00000566405.1:c.241A>T
  hgvsp: ENSP00000455301.1:p.Met81Leu
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000454714
  ensembl transcript: ENST00000564903
  gene symbol: COX4I1
  hgvsc: ENST00000564903.1:c.355A>T
  hgvsp: ENSP00000454714.1:p.Met119Leu
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000456452
  ensembl transcript: ENST00000564544
  gene symbol: COX4I1
  hgvsc: ENST00000564544.1:c.*152A>T
  variant of: http://identifiers.org/hgnc/2265
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8230
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6660
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8546
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5941
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7732
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8649
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2130
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4740
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met119Leu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

16-85839454-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85839454
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 85839454
    reference: chr 16
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000454714
  ensembl transcript: ENST00000564903
  gene symbol: COX4I1
  hgvsc: ENST00000564903.1:c.357G>T
  hgvsp: ENSP00000454714.1:p.Met119Ile
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000564648
  gene symbol: COX4I1
  hgvsc: ENST00000564648.1:n.989G>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000569997
  gene symbol: COX4I1
  hgvsc: ENST00000569997.1:n.2792G>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455301
  ensembl transcript: ENST00000566405
  gene symbol: COX4I1
  hgvsc: ENST00000566405.1:c.243G>T
  hgvsp: ENSP00000455301.1:p.Met81Ile
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455030
  ensembl transcript: ENST00000568794
  gene symbol: COX4I1
  hgvsc: ENST00000568794.1:c.357G>T
  hgvsp: ENSP00000455030.1:p.Met119Ile
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000253452
  ensembl transcript: ENST00000253452
  gene symbol: COX4I1
  hgvsc: ENST00000253452.2:c.357G>T
  hgvsp: ENSP00000253452.2:p.Met119Ile
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457513
  ensembl transcript: ENST00000562336
  gene symbol: COX4I1
  hgvsc: ENST00000562336.1:c.357G>T
  hgvsp: ENSP00000457513.1:p.Met119Ile
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000456452
  ensembl transcript: ENST00000564544
  gene symbol: COX4I1
  hgvsc: ENST00000564544.1:c.*154G>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457015
  ensembl transcript: ENST00000561569
  gene symbol: COX4I1
  hgvsc: ENST00000561569.1:c.357G>T
  hgvsp: ENSP00000457015.1:p.Met119Ile
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000568339
  gene symbol: COX4I1
  hgvsc: ENST00000568339.1:n.1117G>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000562929
  gene symbol: COX4I1
  hgvsc: ENST00000562929.1:n.142G>T
  variant of: http://identifiers.org/hgnc/2265
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8649
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5939
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8229
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8546
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7731
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6660
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4740
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met119Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

16-85839480-G-GCTGCTGACCTTTGTGCCTGTAAATGGCTGTCCTCTCTGCCCCCAGTGTATCGC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85839480
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 85839533
    reference: chr 16
allele count: 1
allele frequency: 8.243751236562685e-6
allele num: 121304
alternate allele: GCTGCTGACCTTTGTGCCTGTAAATGGCTGTCCTCTCTGCCCCCAGTGTATCGC
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000456452
  ensembl transcript: ENST00000564544
  gene symbol: COX4I1
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457015
  ensembl transcript: ENST00000561569
  gene symbol: COX4I1
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000564648
  gene symbol: COX4I1
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000562929
  gene symbol: COX4I1
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457513
  ensembl transcript: ENST00000562336
  gene symbol: COX4I1
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000454714
  ensembl transcript: ENST00000564903
  gene symbol: COX4I1
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455030
  ensembl transcript: ENST00000568794
  gene symbol: COX4I1
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000253452
  ensembl transcript: ENST00000253452
  gene symbol: COX4I1
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000569997
  gene symbol: COX4I1
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000568339
  gene symbol: COX4I1
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455301
  ensembl transcript: ENST00000566405
  gene symbol: COX4I1
  variant of: http://identifiers.org/hgnc/2265
canonical: false
consequence: 3' UTR
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8225
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8530
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6659
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4740
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8650
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7694
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5772
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

16-85839482-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85839482
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 85839482
    reference: chr 16
allele count: 1
allele frequency: 8.244566830458728e-6
allele num: 121292
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457513
  ensembl transcript: ENST00000562336
  gene symbol: COX4I1
  hgvsc: ENST00000562336.1:c.373+12G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000562929
  gene symbol: COX4I1
  hgvsc: ENST00000562929.1:n.158+12G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000456452
  ensembl transcript: ENST00000564544
  gene symbol: COX4I1
  hgvsc: ENST00000564544.1:c.*170+12G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000454714
  ensembl transcript: ENST00000564903
  gene symbol: COX4I1
  hgvsc: ENST00000564903.1:c.*4G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455301
  ensembl transcript: ENST00000566405
  gene symbol: COX4I1
  hgvsc: ENST00000566405.1:c.259+12G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000568339
  gene symbol: COX4I1
  hgvsc: ENST00000568339.1:n.1145G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457015
  ensembl transcript: ENST00000561569
  gene symbol: COX4I1
  hgvsc: ENST00000561569.1:c.373+12G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000569997
  gene symbol: COX4I1
  hgvsc: ENST00000569997.1:n.2820G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000564648
  gene symbol: COX4I1
  hgvsc: ENST00000564648.1:n.1005+12G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000253452
  ensembl transcript: ENST00000253452
  gene symbol: COX4I1
  hgvsc: ENST00000253452.2:c.373+12G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455030
  ensembl transcript: ENST00000568794
  gene symbol: COX4I1
  hgvsc: ENST00000568794.1:c.373+12G>A
  variant of: http://identifiers.org/hgnc/2265
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8227
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4740
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5758
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7688
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6658
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8534
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8647
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

16-85839490-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85839490
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 85839490
    reference: chr 16
allele count: 1
allele frequency: 8.24715060946443e-6
allele num: 121254
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000253452
  ensembl transcript: ENST00000253452
  gene symbol: COX4I1
  hgvsc: ENST00000253452.2:c.373+20G>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455030
  ensembl transcript: ENST00000568794
  gene symbol: COX4I1
  hgvsc: ENST00000568794.1:c.373+20G>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000564648
  gene symbol: COX4I1
  hgvsc: ENST00000564648.1:n.1005+20G>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000569997
  gene symbol: COX4I1
  hgvsc: ENST00000569997.1:n.2828G>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000568339
  gene symbol: COX4I1
  hgvsc: ENST00000568339.1:n.1153G>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457015
  ensembl transcript: ENST00000561569
  gene symbol: COX4I1
  hgvsc: ENST00000561569.1:c.373+20G>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000456452
  ensembl transcript: ENST00000564544
  gene symbol: COX4I1
  hgvsc: ENST00000564544.1:c.*170+20G>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000562929
  gene symbol: COX4I1
  hgvsc: ENST00000562929.1:n.158+20G>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000454714
  ensembl transcript: ENST00000564903
  gene symbol: COX4I1
  hgvsc: ENST00000564903.1:c.*12G>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457513
  ensembl transcript: ENST00000562336
  gene symbol: COX4I1
  hgvsc: ENST00000562336.1:c.373+20G>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455301
  ensembl transcript: ENST00000566405
  gene symbol: COX4I1
  hgvsc: ENST00000566405.1:c.259+20G>T
  variant of: http://identifiers.org/hgnc/2265
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8649
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8224
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7605
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8496
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4741
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5576
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6658
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

16-85839491-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85839491
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 85839491
    reference: chr 16
allele count: 1
allele frequency: 8.248239000973292e-6
allele num: 121238
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000564648
  gene symbol: COX4I1
  hgvsc: ENST00000564648.1:n.1005+21G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457513
  ensembl transcript: ENST00000562336
  gene symbol: COX4I1
  hgvsc: ENST00000562336.1:c.373+21G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000456452
  ensembl transcript: ENST00000564544
  gene symbol: COX4I1
  hgvsc: ENST00000564544.1:c.*170+21G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000253452
  ensembl transcript: ENST00000253452
  gene symbol: COX4I1
  hgvsc: ENST00000253452.2:c.373+21G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455301
  ensembl transcript: ENST00000566405
  gene symbol: COX4I1
  hgvsc: ENST00000566405.1:c.259+21G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000454714
  ensembl transcript: ENST00000564903
  gene symbol: COX4I1
  hgvsc: ENST00000564903.1:c.*13G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000569997
  gene symbol: COX4I1
  hgvsc: ENST00000569997.1:n.2829G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457015
  ensembl transcript: ENST00000561569
  gene symbol: COX4I1
  hgvsc: ENST00000561569.1:c.373+21G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455030
  ensembl transcript: ENST00000568794
  gene symbol: COX4I1
  hgvsc: ENST00000568794.1:c.373+21G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000568339
  gene symbol: COX4I1
  hgvsc: ENST00000568339.1:n.1154G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000562929
  gene symbol: COX4I1
  hgvsc: ENST00000562929.1:n.158+21G>A
  variant of: http://identifiers.org/hgnc/2265
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8507
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8225
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7585
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6659
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5554
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4741
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8651
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2128
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7405
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

16-85839494-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85839494
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 85839494
    reference: chr 16
allele count: 1
allele frequency: 8.250280509537325e-6
allele num: 121208
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000568339
  gene symbol: COX4I1
  hgvsc: ENST00000568339.1:n.1157T>G
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000569997
  gene symbol: COX4I1
  hgvsc: ENST00000569997.1:n.2832T>G
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000562929
  gene symbol: COX4I1
  hgvsc: ENST00000562929.1:n.158+24T>G
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000456452
  ensembl transcript: ENST00000564544
  gene symbol: COX4I1
  hgvsc: ENST00000564544.1:c.*170+24T>G
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000564648
  gene symbol: COX4I1
  hgvsc: ENST00000564648.1:n.1005+24T>G
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457015
  ensembl transcript: ENST00000561569
  gene symbol: COX4I1
  hgvsc: ENST00000561569.1:c.373+24T>G
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455301
  ensembl transcript: ENST00000566405
  gene symbol: COX4I1
  hgvsc: ENST00000566405.1:c.259+24T>G
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000454714
  ensembl transcript: ENST00000564903
  gene symbol: COX4I1
  hgvsc: ENST00000564903.1:c.*16T>G
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457513
  ensembl transcript: ENST00000562336
  gene symbol: COX4I1
  hgvsc: ENST00000562336.1:c.373+24T>G
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000253452
  ensembl transcript: ENST00000253452
  gene symbol: COX4I1
  hgvsc: ENST00000253452.2:c.373+24T>G
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455030
  ensembl transcript: ENST00000568794
  gene symbol: COX4I1
  hgvsc: ENST00000568794.1:c.373+24T>G
  variant of: http://identifiers.org/hgnc/2265
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8225
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4740
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5450
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8487
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7523
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8650
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6659
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7197
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

16-85839498-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85839498
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 85839498
    reference: chr 16
allele count: 8
allele frequency: 6.602294297268301e-5
allele num: 121170
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455301
  ensembl transcript: ENST00000566405
  gene symbol: COX4I1
  hgvsc: ENST00000566405.1:c.259+28C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000568339
  gene symbol: COX4I1
  hgvsc: ENST00000568339.1:n.1161C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000562929
  gene symbol: COX4I1
  hgvsc: ENST00000562929.1:n.158+28C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000569997
  gene symbol: COX4I1
  hgvsc: ENST00000569997.1:n.2836C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000454714
  ensembl transcript: ENST00000564903
  gene symbol: COX4I1
  hgvsc: ENST00000564903.1:c.*20C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000253452
  ensembl transcript: ENST00000253452
  gene symbol: COX4I1
  hgvsc: ENST00000253452.2:c.373+28C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000564648
  gene symbol: COX4I1
  hgvsc: ENST00000564648.1:n.1005+28C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457015
  ensembl transcript: ENST00000561569
  gene symbol: COX4I1
  hgvsc: ENST00000561569.1:c.373+28C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457513
  ensembl transcript: ENST00000562336
  gene symbol: COX4I1
  hgvsc: ENST00000562336.1:c.373+28C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000456452
  ensembl transcript: ENST00000564544
  gene symbol: COX4I1
  hgvsc: ENST00000564544.1:c.*170+28C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455030
  ensembl transcript: ENST00000568794
  gene symbol: COX4I1
  hgvsc: ENST00000568794.1:c.373+28C>T
  variant of: http://identifiers.org/hgnc/2265
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8641
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5367
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8490
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8229
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4739
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6662
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2127
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7447
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3077
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

16-85839499-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85839499
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 85839499
    reference: chr 16
allele count: 1
allele frequency: 8.253412786187088e-6
allele num: 121162
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000253452
  ensembl transcript: ENST00000253452
  gene symbol: COX4I1
  hgvsc: ENST00000253452.2:c.373+29G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457015
  ensembl transcript: ENST00000561569
  gene symbol: COX4I1
  hgvsc: ENST00000561569.1:c.373+29G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000456452
  ensembl transcript: ENST00000564544
  gene symbol: COX4I1
  hgvsc: ENST00000564544.1:c.*170+29G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000568339
  gene symbol: COX4I1
  hgvsc: ENST00000568339.1:n.1162G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000562929
  gene symbol: COX4I1
  hgvsc: ENST00000562929.1:n.158+29G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455030
  ensembl transcript: ENST00000568794
  gene symbol: COX4I1
  hgvsc: ENST00000568794.1:c.373+29G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455301
  ensembl transcript: ENST00000566405
  gene symbol: COX4I1
  hgvsc: ENST00000566405.1:c.259+29G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000454714
  ensembl transcript: ENST00000564903
  gene symbol: COX4I1
  hgvsc: ENST00000564903.1:c.*21G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457513
  ensembl transcript: ENST00000562336
  gene symbol: COX4I1
  hgvsc: ENST00000562336.1:c.373+29G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000569997
  gene symbol: COX4I1
  hgvsc: ENST00000569997.1:n.2837G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000564648
  gene symbol: COX4I1
  hgvsc: ENST00000564648.1:n.1005+29G>A
  variant of: http://identifiers.org/hgnc/2265
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8464
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8224
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4741
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2128
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6660
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8641
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7410
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5321
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3219
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD

16-85839500-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85839500
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 85839500
    reference: chr 16
allele count: 1
allele frequency: 8.252050634582693e-6
allele num: 121182
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000569997
  gene symbol: COX4I1
  hgvsc: ENST00000569997.1:n.2838C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457015
  ensembl transcript: ENST00000561569
  gene symbol: COX4I1
  hgvsc: ENST00000561569.1:c.373+30C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000253452
  ensembl transcript: ENST00000253452
  gene symbol: COX4I1
  hgvsc: ENST00000253452.2:c.373+30C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000456452
  ensembl transcript: ENST00000564544
  gene symbol: COX4I1
  hgvsc: ENST00000564544.1:c.*170+30C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000564648
  gene symbol: COX4I1
  hgvsc: ENST00000564648.1:n.1005+30C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000568339
  gene symbol: COX4I1
  hgvsc: ENST00000568339.1:n.1163C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000562929
  gene symbol: COX4I1
  hgvsc: ENST00000562929.1:n.158+30C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000454714
  ensembl transcript: ENST00000564903
  gene symbol: COX4I1
  hgvsc: ENST00000564903.1:c.*22C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455301
  ensembl transcript: ENST00000566405
  gene symbol: COX4I1
  hgvsc: ENST00000566405.1:c.259+30C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455030
  ensembl transcript: ENST00000568794
  gene symbol: COX4I1
  hgvsc: ENST00000568794.1:c.373+30C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457513
  ensembl transcript: ENST00000562336
  gene symbol: COX4I1
  hgvsc: ENST00000562336.1:c.373+30C>T
  variant of: http://identifiers.org/hgnc/2265
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5332
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8458
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6658
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7407
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8638
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8222
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4741
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

16-85839503-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85839503
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 85839503
    reference: chr 16
allele count: 1
allele frequency: 8.253412786187088e-6
allele num: 121162
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000568339
  gene symbol: COX4I1
  hgvsc: ENST00000568339.1:n.1166G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000456452
  ensembl transcript: ENST00000564544
  gene symbol: COX4I1
  hgvsc: ENST00000564544.1:c.*170+33G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000569997
  gene symbol: COX4I1
  hgvsc: ENST00000569997.1:n.2841G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457513
  ensembl transcript: ENST00000562336
  gene symbol: COX4I1
  hgvsc: ENST00000562336.1:c.373+33G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000454714
  ensembl transcript: ENST00000564903
  gene symbol: COX4I1
  hgvsc: ENST00000564903.1:c.*25G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455301
  ensembl transcript: ENST00000566405
  gene symbol: COX4I1
  hgvsc: ENST00000566405.1:c.259+33G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455030
  ensembl transcript: ENST00000568794
  gene symbol: COX4I1
  hgvsc: ENST00000568794.1:c.373+33G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457015
  ensembl transcript: ENST00000561569
  gene symbol: COX4I1
  hgvsc: ENST00000561569.1:c.373+33G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000253452
  ensembl transcript: ENST00000253452
  gene symbol: COX4I1
  hgvsc: ENST00000253452.2:c.373+33G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000562929
  gene symbol: COX4I1
  hgvsc: ENST00000562929.1:n.158+33G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000564648
  gene symbol: COX4I1
  hgvsc: ENST00000564648.1:n.1005+33G>A
  variant of: http://identifiers.org/hgnc/2265
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8639
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4741
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8220
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7331
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5240
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6658
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8441
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD

16-85839515-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85839515
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 85839515
    reference: chr 16
allele count: 170
allele frequency: 1.403984011099733e-3
allele num: 121084
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455030
  ensembl transcript: ENST00000568794
  gene symbol: COX4I1
  hgvsc: ENST00000568794.1:c.373+45C>G
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457513
  ensembl transcript: ENST00000562336
  gene symbol: COX4I1
  hgvsc: ENST00000562336.1:c.373+45C>G
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000564648
  gene symbol: COX4I1
  hgvsc: ENST00000564648.1:n.1005+45C>G
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000562929
  gene symbol: COX4I1
  hgvsc: ENST00000562929.1:n.158+45C>G
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000454714
  ensembl transcript: ENST00000564903
  gene symbol: COX4I1
  hgvsc: ENST00000564903.1:c.*37C>G
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000568339
  gene symbol: COX4I1
  hgvsc: ENST00000568339.1:n.1178C>G
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457015
  ensembl transcript: ENST00000561569
  gene symbol: COX4I1
  hgvsc: ENST00000561569.1:c.373+45C>G
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000456452
  ensembl transcript: ENST00000564544
  gene symbol: COX4I1
  hgvsc: ENST00000564544.1:c.*170+45C>G
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000253452
  ensembl transcript: ENST00000253452
  gene symbol: COX4I1
  hgvsc: ENST00000253452.2:c.373+45C>G
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000569997
  gene symbol: COX4I1
  hgvsc: ENST00000569997.1:n.2853C>G
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455301
  ensembl transcript: ENST00000566405
  gene symbol: COX4I1
  hgvsc: ENST00000566405.1:c.259+45C>G
  variant of: http://identifiers.org/hgnc/2265
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8597
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8209
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8308
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3219
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 8.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6649
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 8.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 4769
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4726
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 7.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 9.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 6969
  bin: 2.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 2135
  bin: 6.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 9.75e1
  variant carriers: 67
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 7.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 2
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum

16-85839519-C-CTATTCAA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85839519
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 85839526
    reference: chr 16
allele count: 1
allele frequency: 8.263233568560049e-6
allele num: 121018
alternate allele: CTATTCAA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455301
  ensembl transcript: ENST00000566405
  gene symbol: COX4I1
  hgvsc: ENST00000566405.1:c.259+50_259+51insATTCAAT
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457015
  ensembl transcript: ENST00000561569
  gene symbol: COX4I1
  hgvsc: ENST00000561569.1:c.373+50_373+51insATTCAAT
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457513
  ensembl transcript: ENST00000562336
  gene symbol: COX4I1
  hgvsc: ENST00000562336.1:c.373+50_373+51insATTCAAT
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000564648
  gene symbol: COX4I1
  hgvsc: ENST00000564648.1:n.1005+50_1005+51insATTCAAT
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455030
  ensembl transcript: ENST00000568794
  gene symbol: COX4I1
  hgvsc: ENST00000568794.1:c.373+50_373+51insATTCAAT
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000454714
  ensembl transcript: ENST00000564903
  gene symbol: COX4I1
  hgvsc: ENST00000564903.1:c.*42_*43insATTCAAT
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000456452
  ensembl transcript: ENST00000564544
  gene symbol: COX4I1
  hgvsc: ENST00000564544.1:c.*170+50_*170+51insATTCAAT
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000569997
  gene symbol: COX4I1
  hgvsc: ENST00000569997.1:n.2858_2859insATTCAAT
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000568339
  gene symbol: COX4I1
  hgvsc: ENST00000568339.1:n.1183_1184insATTCAAT
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000253452
  ensembl transcript: ENST00000253452
  gene symbol: COX4I1
  hgvsc: ENST00000253452.2:c.373+50_373+51insATTCAAT
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000562929
  gene symbol: COX4I1
  hgvsc: ENST00000562929.1:n.158+50_158+51insATTCAAT
  variant of: http://identifiers.org/hgnc/2265
canonical: false
consequence: 3' UTR
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8591
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8271
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4803
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4736
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3225
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6821
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8205
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6651
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2135
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD

16-85839521-G-GTGTTTTT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85839521
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 85839528
    reference: chr 16
allele count: 1
allele frequency: 8.262823902696986e-6
allele num: 121024
alternate allele: GTGTTTTT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000564648
  gene symbol: COX4I1
  hgvsc: ENST00000564648.1:n.1005+51_1005+52insTGTTTTT
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457015
  ensembl transcript: ENST00000561569
  gene symbol: COX4I1
  hgvsc: ENST00000561569.1:c.373+51_373+52insTGTTTTT
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000568339
  gene symbol: COX4I1
  hgvsc: ENST00000568339.1:n.1184_1185insTGTTTTT
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000562929
  gene symbol: COX4I1
  hgvsc: ENST00000562929.1:n.158+51_158+52insTGTTTTT
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455301
  ensembl transcript: ENST00000566405
  gene symbol: COX4I1
  hgvsc: ENST00000566405.1:c.259+51_259+52insTGTTTTT
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000456452
  ensembl transcript: ENST00000564544
  gene symbol: COX4I1
  hgvsc: ENST00000564544.1:c.*170+51_*170+52insTGTTTTT
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000569997
  gene symbol: COX4I1
  hgvsc: ENST00000569997.1:n.2859_2860insTGTTTTT
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000454714
  ensembl transcript: ENST00000564903
  gene symbol: COX4I1
  hgvsc: ENST00000564903.1:c.*43_*44insTGTTTTT
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457513
  ensembl transcript: ENST00000562336
  gene symbol: COX4I1
  hgvsc: ENST00000562336.1:c.373+51_373+52insTGTTTTT
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000253452
  ensembl transcript: ENST00000253452
  gene symbol: COX4I1
  hgvsc: ENST00000253452.2:c.373+51_373+52insTGTTTTT
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455030
  ensembl transcript: ENST00000568794
  gene symbol: COX4I1
  hgvsc: ENST00000568794.1:c.373+51_373+52insTGTTTTT
  variant of: http://identifiers.org/hgnc/2265
canonical: false
consequence: 3' UTR
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 8206
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3225
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6792
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4736
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6649
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8238
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4881
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8578
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2135
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP

16-85839522-C-CAGAA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85839522
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 85839526
    reference: chr 16
allele count: 1
allele frequency: 8.268973158913126e-6
allele num: 120934
alternate allele: CAGAA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457015
  ensembl transcript: ENST00000561569
  gene symbol: COX4I1
  hgvsc: ENST00000561569.1:c.373+54_373+55insAAAG
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000569997
  gene symbol: COX4I1
  hgvsc: ENST00000569997.1:n.2862_2863insAAAG
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457513
  ensembl transcript: ENST00000562336
  gene symbol: COX4I1
  hgvsc: ENST00000562336.1:c.373+54_373+55insAAAG
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000568339
  gene symbol: COX4I1
  hgvsc: ENST00000568339.1:n.1187_1188insAAAG
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000564648
  gene symbol: COX4I1
  hgvsc: ENST00000564648.1:n.1005+54_1005+55insAAAG
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000454714
  ensembl transcript: ENST00000564903
  gene symbol: COX4I1
  hgvsc: ENST00000564903.1:c.*46_*47insAAAG
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000456452
  ensembl transcript: ENST00000564544
  gene symbol: COX4I1
  hgvsc: ENST00000564544.1:c.*170+54_*170+55insAAAG
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455030
  ensembl transcript: ENST00000568794
  gene symbol: COX4I1
  hgvsc: ENST00000568794.1:c.373+54_373+55insAAAG
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455301
  ensembl transcript: ENST00000566405
  gene symbol: COX4I1
  hgvsc: ENST00000566405.1:c.259+54_259+55insAAAG
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000562929
  gene symbol: COX4I1
  hgvsc: ENST00000562929.1:n.158+54_158+55insAAAG
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000253452
  ensembl transcript: ENST00000253452
  gene symbol: COX4I1
  hgvsc: ENST00000253452.2:c.373+54_373+55insAAAG
  variant of: http://identifiers.org/hgnc/2265
canonical: false
consequence: 3' UTR
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 8206
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6649
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3226
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4918
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6748
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8243
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8574
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4736
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2135
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

16-85839524-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85839524
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 85839524
    reference: chr 16
allele count: 2
allele frequency: 1.653466492501529e-5
allele num: 120958
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455030
  ensembl transcript: ENST00000568794
  gene symbol: COX4I1
  hgvsc: ENST00000568794.1:c.373+54G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000569997
  gene symbol: COX4I1
  hgvsc: ENST00000569997.1:n.2862G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000568339
  gene symbol: COX4I1
  hgvsc: ENST00000568339.1:n.1187G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455301
  ensembl transcript: ENST00000566405
  gene symbol: COX4I1
  hgvsc: ENST00000566405.1:c.259+54G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000253452
  ensembl transcript: ENST00000253452
  gene symbol: COX4I1
  hgvsc: ENST00000253452.2:c.373+54G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000454714
  ensembl transcript: ENST00000564903
  gene symbol: COX4I1
  hgvsc: ENST00000564903.1:c.*46G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000562929
  gene symbol: COX4I1
  hgvsc: ENST00000562929.1:n.158+54G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457015
  ensembl transcript: ENST00000561569
  gene symbol: COX4I1
  hgvsc: ENST00000561569.1:c.373+54G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457513
  ensembl transcript: ENST00000562336
  gene symbol: COX4I1
  hgvsc: ENST00000562336.1:c.373+54G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000564648
  gene symbol: COX4I1
  hgvsc: ENST00000564648.1:n.1005+54G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000456452
  ensembl transcript: ENST00000564544
  gene symbol: COX4I1
  hgvsc: ENST00000564544.1:c.*170+54G>A
  variant of: http://identifiers.org/hgnc/2265
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6650
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6563
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2134
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4736
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8187
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8204
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5146
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3225
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8568
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/16-85840035-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85840035
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 85840034
    reference: chr 16
allele count: 11025
allele frequency: 9.980988593155894e-1
allele num: 11046
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000456452
  ensembl transcript: ENST00000564544
  gene symbol: COX4I1
  hgvsc: ENST00000564544.1:c.*171-397delA
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000253452
  ensembl transcript: ENST00000253452
  gene symbol: COX4I1
  hgvsc: ENST00000253452.2:c.374-308delA
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000568339
  gene symbol: COX4I1
  hgvsc: ENST00000568339.1:n.1699delA
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000564648
  gene symbol: COX4I1
  hgvsc: ENST00000564648.1:n.1006-308delA
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000569997
  gene symbol: COX4I1
  hgvsc: ENST00000569997.1:n.3374delA
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455301
  ensembl transcript: ENST00000566405
  gene symbol: COX4I1
  hgvsc: ENST00000566405.1:c.260-308delA
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457015
  ensembl transcript: ENST00000561569
  gene symbol: COX4I1
  hgvsc: ENST00000561569.1:c.374-308delA
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457513
  ensembl transcript: ENST00000562336
  gene symbol: COX4I1
  hgvsc: ENST00000562336.1:c.374-308delA
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000562929
  gene symbol: COX4I1
  hgvsc: ENST00000562929.1:n.159-308delA
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455030
  ensembl transcript: ENST00000568794
  gene symbol: COX4I1
  hgvsc: ENST00000568794.1:c.374-26delA
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000454714
  ensembl transcript: ENST00000564903
  gene symbol: COX4I1
  hgvsc: ENST00000564903.1:c.*558delA
  variant of: http://identifiers.org/hgnc/2265
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.75e1
  variant carriers: 228
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 3.25e1
  variant carriers: 864
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 7.5e0
  variant carriers: 858
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 4.25e1
  variant carriers: 944
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 125
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 3.75e1
  variant carriers: 996
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.25e1
  variant carriers: 118
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 2.75e1
  variant carriers: 560
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 4.75e1
  variant carriers: 725
genotype depth: GenotypeDepth
  all individuals: 2212
  bin: 2.5e0
  variant carriers: 2139
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 2.25e1
  variant carriers: 261
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.25e1
  variant carriers: 149
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 5.25e1
  variant carriers: 459
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 21
num of homozygotes: 5502
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: CA
site quality: DP
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/16-85840040-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85840040
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 85840040
    reference: chr 16
allele count: 1
allele frequency: 9.085953116481919e-5
allele num: 11006
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457015
  ensembl transcript: ENST00000561569
  gene symbol: COX4I1
  hgvsc: ENST00000561569.1:c.374-304C>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000253452
  ensembl transcript: ENST00000253452
  gene symbol: COX4I1
  hgvsc: ENST00000253452.2:c.374-304C>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000564648
  gene symbol: COX4I1
  hgvsc: ENST00000564648.1:n.1006-304C>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455301
  ensembl transcript: ENST00000566405
  gene symbol: COX4I1
  hgvsc: ENST00000566405.1:c.260-304C>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000569997
  gene symbol: COX4I1
  hgvsc: ENST00000569997.1:n.3378C>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000454714
  ensembl transcript: ENST00000564903
  gene symbol: COX4I1
  hgvsc: ENST00000564903.1:c.*562C>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455030
  ensembl transcript: ENST00000568794
  gene symbol: COX4I1
  hgvsc: ENST00000568794.1:c.374-22C>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000456452
  ensembl transcript: ENST00000564544
  gene symbol: COX4I1
  hgvsc: ENST00000564544.1:c.*171-393C>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000568339
  gene symbol: COX4I1
  hgvsc: ENST00000568339.1:n.1703C>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457513
  ensembl transcript: ENST00000562336
  gene symbol: COX4I1
  hgvsc: ENST00000562336.1:c.374-304C>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000562929
  gene symbol: COX4I1
  hgvsc: ENST00000562929.1:n.159-304C>A
  variant of: http://identifiers.org/hgnc/2265
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7098
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ

16-85840041-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85840041
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 85840041
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 11022
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000253452
  ensembl transcript: ENST00000253452
  gene symbol: COX4I1
  hgvsc: ENST00000253452.2:c.374-303C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457513
  ensembl transcript: ENST00000562336
  gene symbol: COX4I1
  hgvsc: ENST00000562336.1:c.374-303C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457015
  ensembl transcript: ENST00000561569
  gene symbol: COX4I1
  hgvsc: ENST00000561569.1:c.374-303C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000568339
  gene symbol: COX4I1
  hgvsc: ENST00000568339.1:n.1704C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000569997
  gene symbol: COX4I1
  hgvsc: ENST00000569997.1:n.3379C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455301
  ensembl transcript: ENST00000566405
  gene symbol: COX4I1
  hgvsc: ENST00000566405.1:c.260-303C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000456452
  ensembl transcript: ENST00000564544
  gene symbol: COX4I1
  hgvsc: ENST00000564544.1:c.*171-392C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000454714
  ensembl transcript: ENST00000564903
  gene symbol: COX4I1
  hgvsc: ENST00000564903.1:c.*563C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000562929
  gene symbol: COX4I1
  hgvsc: ENST00000562929.1:n.159-303C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455030
  ensembl transcript: ENST00000568794
  gene symbol: COX4I1
  hgvsc: ENST00000568794.1:c.374-21C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000564648
  gene symbol: COX4I1
  hgvsc: ENST00000564648.1:n.1006-303C>T
  variant of: http://identifiers.org/hgnc/2265
canonical: false
consequence: 3' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7273
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
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: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP

16-85840042-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85840042
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 85840042
    reference: chr 16
allele count: 1
allele frequency: 9.071117561683599e-5
allele num: 11024
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000456452
  ensembl transcript: ENST00000564544
  gene symbol: COX4I1
  hgvsc: ENST00000564544.1:c.*171-391G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000562929
  gene symbol: COX4I1
  hgvsc: ENST00000562929.1:n.159-302G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000253452
  ensembl transcript: ENST00000253452
  gene symbol: COX4I1
  hgvsc: ENST00000253452.2:c.374-302G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457513
  ensembl transcript: ENST00000562336
  gene symbol: COX4I1
  hgvsc: ENST00000562336.1:c.374-302G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000569997
  gene symbol: COX4I1
  hgvsc: ENST00000569997.1:n.3380G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000568339
  gene symbol: COX4I1
  hgvsc: ENST00000568339.1:n.1705G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455030
  ensembl transcript: ENST00000568794
  gene symbol: COX4I1
  hgvsc: ENST00000568794.1:c.374-20G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455301
  ensembl transcript: ENST00000566405
  gene symbol: COX4I1
  hgvsc: ENST00000566405.1:c.260-302G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000454714
  ensembl transcript: ENST00000564903
  gene symbol: COX4I1
  hgvsc: ENST00000564903.1:c.*564G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457015
  ensembl transcript: ENST00000561569
  gene symbol: COX4I1
  hgvsc: ENST00000561569.1:c.374-302G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000564648
  gene symbol: COX4I1
  hgvsc: ENST00000564648.1:n.1006-302G>A
  variant of: http://identifiers.org/hgnc/2265
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7546
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

16-85840048-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85840048
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 85840048
    reference: chr 16
allele count: 1
allele frequency: 9.069472156720479e-5
allele num: 11026
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455301
  ensembl transcript: ENST00000566405
  gene symbol: COX4I1
  hgvsc: ENST00000566405.1:c.260-296A>G
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457513
  ensembl transcript: ENST00000562336
  gene symbol: COX4I1
  hgvsc: ENST00000562336.1:c.374-296A>G
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000568339
  gene symbol: COX4I1
  hgvsc: ENST00000568339.1:n.1711A>G
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457015
  ensembl transcript: ENST00000561569
  gene symbol: COX4I1
  hgvsc: ENST00000561569.1:c.374-296A>G
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000564648
  gene symbol: COX4I1
  hgvsc: ENST00000564648.1:n.1006-296A>G
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000454714
  ensembl transcript: ENST00000564903
  gene symbol: COX4I1
  hgvsc: ENST00000564903.1:c.*570A>G
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000569997
  gene symbol: COX4I1
  hgvsc: ENST00000569997.1:n.3386A>G
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000253452
  ensembl transcript: ENST00000253452
  gene symbol: COX4I1
  hgvsc: ENST00000253452.2:c.374-296A>G
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455030
  ensembl transcript: ENST00000568794
  gene symbol: COX4I1
  hgvsc: ENST00000568794.1:c.374-14A>G
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000456452
  ensembl transcript: ENST00000564544
  gene symbol: COX4I1
  hgvsc: ENST00000564544.1:c.*171-385A>G
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000562929
  gene symbol: COX4I1
  hgvsc: ENST00000562929.1:n.159-296A>G
  variant of: http://identifiers.org/hgnc/2265
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8790
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

16-85840071-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85840071
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 85840071
    reference: chr 16
allele count: 1
allele frequency: 9.038322487346348e-5
allele num: 11064
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000564648
  gene symbol: COX4I1
  hgvsc: ENST00000564648.1:n.1006-273G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457513
  ensembl transcript: ENST00000562336
  gene symbol: COX4I1
  hgvsc: ENST00000562336.1:c.374-273G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000253452
  ensembl transcript: ENST00000253452
  gene symbol: COX4I1
  hgvsc: ENST00000253452.2:c.374-273G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000569997
  gene symbol: COX4I1
  hgvsc: ENST00000569997.1:n.3409G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000562929
  gene symbol: COX4I1
  hgvsc: ENST00000562929.1:n.159-273G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455030
  ensembl transcript: ENST00000568794
  gene symbol: COX4I1
  hgvsc: ENST00000568794.1:c.383G>A
  hgvsp: ENSP00000455030.1:p.Gly128Glu
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000568339
  gene symbol: COX4I1
  hgvsc: ENST00000568339.1:n.1734G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000454714
  ensembl transcript: ENST00000564903
  gene symbol: COX4I1
  hgvsc: ENST00000564903.1:c.*593G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000456452
  ensembl transcript: ENST00000564544
  gene symbol: COX4I1
  hgvsc: ENST00000564544.1:c.*171-362G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455301
  ensembl transcript: ENST00000566405
  gene symbol: COX4I1
  hgvsc: ENST00000566405.1:c.260-273G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457015
  ensembl transcript: ENST00000561569
  gene symbol: COX4I1
  hgvsc: ENST00000561569.1:c.374-273G>A
  variant of: http://identifiers.org/hgnc/2265
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12529
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly128Glu
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQ

16-85840083-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85840083
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 85840083
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 11078
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000569997
  gene symbol: COX4I1
  hgvsc: ENST00000569997.1:n.3421C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000454714
  ensembl transcript: ENST00000564903
  gene symbol: COX4I1
  hgvsc: ENST00000564903.1:c.*605C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455030
  ensembl transcript: ENST00000568794
  gene symbol: COX4I1
  hgvsc: ENST00000568794.1:c.395C>T
  hgvsp: ENSP00000455030.1:p.Ser132Leu
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000568339
  gene symbol: COX4I1
  hgvsc: ENST00000568339.1:n.1746C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000562929
  gene symbol: COX4I1
  hgvsc: ENST00000562929.1:n.159-261C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457513
  ensembl transcript: ENST00000562336
  gene symbol: COX4I1
  hgvsc: ENST00000562336.1:c.374-261C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457015
  ensembl transcript: ENST00000561569
  gene symbol: COX4I1
  hgvsc: ENST00000561569.1:c.374-261C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000253452
  ensembl transcript: ENST00000253452
  gene symbol: COX4I1
  hgvsc: ENST00000253452.2:c.374-261C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000564648
  gene symbol: COX4I1
  hgvsc: ENST00000564648.1:n.1006-261C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455301
  ensembl transcript: ENST00000566405
  gene symbol: COX4I1
  hgvsc: ENST00000566405.1:c.260-261C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000456452
  ensembl transcript: ENST00000564544
  gene symbol: COX4I1
  hgvsc: ENST00000564544.1:c.*171-350C>T
  variant of: http://identifiers.org/hgnc/2265
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15024
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.75e1
  variant carriers: 1
hgvs: p.Ser132Leu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: QD

16-85840095-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85840095
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 85840095
    reference: chr 16
allele count: 2
allele frequency: 1.790830945558739e-4
allele num: 11168
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000564648
  gene symbol: COX4I1
  hgvsc: ENST00000564648.1:n.1006-249T>C
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000454714
  ensembl transcript: ENST00000564903
  gene symbol: COX4I1
  hgvsc: ENST00000564903.1:c.*617T>C
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000568339
  gene symbol: COX4I1
  hgvsc: ENST00000568339.1:n.1758T>C
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000562929
  gene symbol: COX4I1
  hgvsc: ENST00000562929.1:n.159-249T>C
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000569997
  gene symbol: COX4I1
  hgvsc: ENST00000569997.1:n.3433T>C
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455301
  ensembl transcript: ENST00000566405
  gene symbol: COX4I1
  hgvsc: ENST00000566405.1:c.260-249T>C
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000253452
  ensembl transcript: ENST00000253452
  gene symbol: COX4I1
  hgvsc: ENST00000253452.2:c.374-249T>C
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000456452
  ensembl transcript: ENST00000564544
  gene symbol: COX4I1
  hgvsc: ENST00000564544.1:c.*171-338T>C
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457513
  ensembl transcript: ENST00000562336
  gene symbol: COX4I1
  hgvsc: ENST00000562336.1:c.374-249T>C
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455030
  ensembl transcript: ENST00000568794
  gene symbol: COX4I1
  hgvsc: ENST00000568794.1:c.407T>C
  hgvsp: ENSP00000455030.1:p.Ile136Thr
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457015
  ensembl transcript: ENST00000561569
  gene symbol: COX4I1
  hgvsc: ENST00000561569.1:c.374-249T>C
  variant of: http://identifiers.org/hgnc/2265
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18280
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ile136Thr
num of homozygotes: 1
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff

16-85840098-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85840098
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 85840098
    reference: chr 16
allele count: 1
allele frequency: 8.944543828264758e-5
allele num: 11180
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000564648
  gene symbol: COX4I1
  hgvsc: ENST00000564648.1:n.1006-246A>G
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455030
  ensembl transcript: ENST00000568794
  gene symbol: COX4I1
  hgvsc: ENST00000568794.1:c.410A>G
  hgvsp: ENSP00000455030.1:p.His137Arg
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000454714
  ensembl transcript: ENST00000564903
  gene symbol: COX4I1
  hgvsc: ENST00000564903.1:c.*620A>G
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000569997
  gene symbol: COX4I1
  hgvsc: ENST00000569997.1:n.3436A>G
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000568339
  gene symbol: COX4I1
  hgvsc: ENST00000568339.1:n.1761A>G
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455301
  ensembl transcript: ENST00000566405
  gene symbol: COX4I1
  hgvsc: ENST00000566405.1:c.260-246A>G
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000253452
  ensembl transcript: ENST00000253452
  gene symbol: COX4I1
  hgvsc: ENST00000253452.2:c.374-246A>G
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000562929
  gene symbol: COX4I1
  hgvsc: ENST00000562929.1:n.159-246A>G
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457015
  ensembl transcript: ENST00000561569
  gene symbol: COX4I1
  hgvsc: ENST00000561569.1:c.374-246A>G
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000456452
  ensembl transcript: ENST00000564544
  gene symbol: COX4I1
  hgvsc: ENST00000564544.1:c.*171-335A>G
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457513
  ensembl transcript: ENST00000562336
  gene symbol: COX4I1
  hgvsc: ENST00000562336.1:c.374-246A>G
  variant of: http://identifiers.org/hgnc/2265
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19400
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1946
  bin: 2.5e0
  variant carriers: 0
hgvs: p.His137Arg
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: DP
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/16-85840300-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85840300
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 85840300
    reference: chr 16
allele count: 3
allele frequency: 2.474308430793593e-5
allele num: 121246
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000562929
  gene symbol: COX4I1
  hgvsc: ENST00000562929.1:n.159-44A>C
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000456452
  ensembl transcript: ENST00000564544
  gene symbol: COX4I1
  hgvsc: ENST00000564544.1:c.*171-133A>C
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000568339
  gene symbol: COX4I1
  hgvsc: ENST00000568339.1:n.1963A>C
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000569997
  gene symbol: COX4I1
  hgvsc: ENST00000569997.1:n.3638A>C
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000454714
  ensembl transcript: ENST00000564903
  gene symbol: COX4I1
  hgvsc: ENST00000564903.1:c.*822A>C
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455301
  ensembl transcript: ENST00000566405
  gene symbol: COX4I1
  hgvsc: ENST00000566405.1:c.260-44A>C
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455030
  ensembl transcript: ENST00000568794
  gene symbol: COX4I1
  hgvsc: ENST00000568794.1:c.*192A>C
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000253452
  ensembl transcript: ENST00000253452
  gene symbol: COX4I1
  hgvsc: ENST00000253452.2:c.374-44A>C
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457015
  ensembl transcript: ENST00000561569
  gene symbol: COX4I1
  hgvsc: ENST00000561569.1:c.374-44A>C
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000564648
  gene symbol: COX4I1
  hgvsc: ENST00000564648.1:n.1006-44A>C
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457513
  ensembl transcript: ENST00000562336
  gene symbol: COX4I1
  hgvsc: ENST00000562336.1:c.374-44A>C
  variant of: http://identifiers.org/hgnc/2265
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11642
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2598
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3028
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5380
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7301
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1697
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3845
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8972
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12051
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.75e1
  variant carriers: 0
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: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/16-85840301-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85840301
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 85840301
    reference: chr 16
allele count: 1
allele frequency: 8.247966876165026e-6
allele num: 121242
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000454714
  ensembl transcript: ENST00000564903
  gene symbol: COX4I1
  hgvsc: ENST00000564903.1:c.*823C>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457015
  ensembl transcript: ENST00000561569
  gene symbol: COX4I1
  hgvsc: ENST00000561569.1:c.374-43C>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455301
  ensembl transcript: ENST00000566405
  gene symbol: COX4I1
  hgvsc: ENST00000566405.1:c.260-43C>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000456452
  ensembl transcript: ENST00000564544
  gene symbol: COX4I1
  hgvsc: ENST00000564544.1:c.*171-132C>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000562929
  gene symbol: COX4I1
  hgvsc: ENST00000562929.1:n.159-43C>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455030
  ensembl transcript: ENST00000568794
  gene symbol: COX4I1
  hgvsc: ENST00000568794.1:c.*193C>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000253452
  ensembl transcript: ENST00000253452
  gene symbol: COX4I1
  hgvsc: ENST00000253452.2:c.374-43C>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457513
  ensembl transcript: ENST00000562336
  gene symbol: COX4I1
  hgvsc: ENST00000562336.1:c.374-43C>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000564648
  gene symbol: COX4I1
  hgvsc: ENST00000564648.1:n.1006-43C>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000569997
  gene symbol: COX4I1
  hgvsc: ENST00000569997.1:n.3639C>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000568339
  gene symbol: COX4I1
  hgvsc: ENST00000568339.1:n.1964C>A
  variant of: http://identifiers.org/hgnc/2265
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2598
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5380
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3847
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7301
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12055
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3057
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11643
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1696
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8976
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2314
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum

16-85840312-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85840312
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 85840312
    reference: chr 16
allele count: 6
allele frequency: 4.948127133879826e-5
allele num: 121258
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000454714
  ensembl transcript: ENST00000564903
  gene symbol: COX4I1
  hgvsc: ENST00000564903.1:c.*834A>G
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000456452
  ensembl transcript: ENST00000564544
  gene symbol: COX4I1
  hgvsc: ENST00000564544.1:c.*171-121A>G
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455030
  ensembl transcript: ENST00000568794
  gene symbol: COX4I1
  hgvsc: ENST00000568794.1:c.*204A>G
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457513
  ensembl transcript: ENST00000562336
  gene symbol: COX4I1
  hgvsc: ENST00000562336.1:c.374-32A>G
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000253452
  ensembl transcript: ENST00000253452
  gene symbol: COX4I1
  hgvsc: ENST00000253452.2:c.374-32A>G
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000568339
  gene symbol: COX4I1
  hgvsc: ENST00000568339.1:n.1975A>G
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000564648
  gene symbol: COX4I1
  hgvsc: ENST00000564648.1:n.1006-32A>G
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455301
  ensembl transcript: ENST00000566405
  gene symbol: COX4I1
  hgvsc: ENST00000566405.1:c.260-32A>G
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000569997
  gene symbol: COX4I1
  hgvsc: ENST00000569997.1:n.3650A>G
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457015
  ensembl transcript: ENST00000561569
  gene symbol: COX4I1
  hgvsc: ENST00000561569.1:c.374-32A>G
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000562929
  gene symbol: COX4I1
  hgvsc: ENST00000562929.1:n.159-32A>G
  variant of: http://identifiers.org/hgnc/2265
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5379
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7295
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3218
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8973
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2598
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12057
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11750
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3847
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7285
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

16-85840324-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85840324
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 85840324
    reference: chr 16
allele count: 2
allele frequency: 1.648994937585542e-5
allele num: 121286
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457513
  ensembl transcript: ENST00000562336
  gene symbol: COX4I1
  hgvsc: ENST00000562336.1:c.374-20T>C
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000456452
  ensembl transcript: ENST00000564544
  gene symbol: COX4I1
  hgvsc: ENST00000564544.1:c.*171-109T>C
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455030
  ensembl transcript: ENST00000568794
  gene symbol: COX4I1
  hgvsc: ENST00000568794.1:c.*216T>C
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000253452
  ensembl transcript: ENST00000253452
  gene symbol: COX4I1
  hgvsc: ENST00000253452.2:c.374-20T>C
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000564648
  gene symbol: COX4I1
  hgvsc: ENST00000564648.1:n.1006-20T>C
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000568339
  gene symbol: COX4I1
  hgvsc: ENST00000568339.1:n.1987T>C
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000569997
  gene symbol: COX4I1
  hgvsc: ENST00000569997.1:n.3662T>C
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000562929
  gene symbol: COX4I1
  hgvsc: ENST00000562929.1:n.159-20T>C
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457015
  ensembl transcript: ENST00000561569
  gene symbol: COX4I1
  hgvsc: ENST00000561569.1:c.374-20T>C
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000454714
  ensembl transcript: ENST00000564903
  gene symbol: COX4I1
  hgvsc: ENST00000564903.1:c.*846T>C
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455301
  ensembl transcript: ENST00000566405
  gene symbol: COX4I1
  hgvsc: ENST00000566405.1:c.260-20T>C
  variant of: http://identifiers.org/hgnc/2265
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7295
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5379
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2600
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11786
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3348
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3846
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8977
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12060
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: QD

16-85840328-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85840328
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 85840328
    reference: chr 16
allele count: 1
allele frequency: 8.244430886935875e-6
allele num: 121294
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000454714
  ensembl transcript: ENST00000564903
  gene symbol: COX4I1
  hgvsc: ENST00000564903.1:c.*850C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455301
  ensembl transcript: ENST00000566405
  gene symbol: COX4I1
  hgvsc: ENST00000566405.1:c.260-16C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000253452
  ensembl transcript: ENST00000253452
  gene symbol: COX4I1
  hgvsc: ENST00000253452.2:c.374-16C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000562929
  gene symbol: COX4I1
  hgvsc: ENST00000562929.1:n.159-16C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457015
  ensembl transcript: ENST00000561569
  gene symbol: COX4I1
  hgvsc: ENST00000561569.1:c.374-16C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000568339
  gene symbol: COX4I1
  hgvsc: ENST00000568339.1:n.1991C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455030
  ensembl transcript: ENST00000568794
  gene symbol: COX4I1
  hgvsc: ENST00000568794.1:c.*220C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457513
  ensembl transcript: ENST00000562336
  gene symbol: COX4I1
  hgvsc: ENST00000562336.1:c.374-16C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000456452
  ensembl transcript: ENST00000564544
  gene symbol: COX4I1
  hgvsc: ENST00000564544.1:c.*171-105C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000564648
  gene symbol: COX4I1
  hgvsc: ENST00000564648.1:n.1006-16C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000569997
  gene symbol: COX4I1
  hgvsc: ENST00000569997.1:n.3666C>T
  variant of: http://identifiers.org/hgnc/2265
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2600
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12059
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7295
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11802
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3846
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8975
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3351
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5377
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2312
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: East Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ

16-85840329-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85840329
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 85840329
    reference: chr 16
allele count: 1
allele frequency: 8.244430886935875e-6
allele num: 121294
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000562929
  gene symbol: COX4I1
  hgvsc: ENST00000562929.1:n.159-15T>C
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000454714
  ensembl transcript: ENST00000564903
  gene symbol: COX4I1
  hgvsc: ENST00000564903.1:c.*851T>C
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457513
  ensembl transcript: ENST00000562336
  gene symbol: COX4I1
  hgvsc: ENST00000562336.1:c.374-15T>C
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457015
  ensembl transcript: ENST00000561569
  gene symbol: COX4I1
  hgvsc: ENST00000561569.1:c.374-15T>C
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455030
  ensembl transcript: ENST00000568794
  gene symbol: COX4I1
  hgvsc: ENST00000568794.1:c.*221T>C
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000253452
  ensembl transcript: ENST00000253452
  gene symbol: COX4I1
  hgvsc: ENST00000253452.2:c.374-15T>C
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000456452
  ensembl transcript: ENST00000564544
  gene symbol: COX4I1
  hgvsc: ENST00000564544.1:c.*171-104T>C
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000568339
  gene symbol: COX4I1
  hgvsc: ENST00000568339.1:n.1992T>C
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000569997
  gene symbol: COX4I1
  hgvsc: ENST00000569997.1:n.3667T>C
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000564648
  gene symbol: COX4I1
  hgvsc: ENST00000564648.1:n.1006-15T>C
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455301
  ensembl transcript: ENST00000566405
  gene symbol: COX4I1
  hgvsc: ENST00000566405.1:c.260-15T>C
  variant of: http://identifiers.org/hgnc/2265
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3847
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7296
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2600
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11810
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12057
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8974
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5377
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3353
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3645
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

16-85840336-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85840336
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 85840336
    reference: chr 16
allele count: 1
allele frequency: 8.24334350012365e-6
allele num: 121310
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000456452
  ensembl transcript: ENST00000564544
  gene symbol: COX4I1
  hgvsc: ENST00000564544.1:c.*171-97C>G
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000568339
  gene symbol: COX4I1
  hgvsc: ENST00000568339.1:n.1999C>G
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455030
  ensembl transcript: ENST00000568794
  gene symbol: COX4I1
  hgvsc: ENST00000568794.1:c.*228C>G
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000562929
  gene symbol: COX4I1
  hgvsc: ENST00000562929.1:n.159-8C>G
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457015
  ensembl transcript: ENST00000561569
  gene symbol: COX4I1
  hgvsc: ENST00000561569.1:c.374-8C>G
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455301
  ensembl transcript: ENST00000566405
  gene symbol: COX4I1
  hgvsc: ENST00000566405.1:c.260-8C>G
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457513
  ensembl transcript: ENST00000562336
  gene symbol: COX4I1
  hgvsc: ENST00000562336.1:c.374-8C>G
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000253452
  ensembl transcript: ENST00000253452
  gene symbol: COX4I1
  hgvsc: ENST00000253452.2:c.374-8C>G
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000569997
  gene symbol: COX4I1
  hgvsc: ENST00000569997.1:n.3674C>G
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000564648
  gene symbol: COX4I1
  hgvsc: ENST00000564648.1:n.1006-8C>G
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000454714
  ensembl transcript: ENST00000564903
  gene symbol: COX4I1
  hgvsc: ENST00000564903.1:c.*858C>G
  variant of: http://identifiers.org/hgnc/2265
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11823
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12050
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7295
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8974
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3848
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5377
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2600
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3365
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.374-8C>G
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ

16-85840336-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85840336
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 85840336
    reference: chr 16
allele count: 1
allele frequency: 8.24334350012365e-6
allele num: 121310
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000564648
  gene symbol: COX4I1
  hgvsc: ENST00000564648.1:n.1006-8C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457513
  ensembl transcript: ENST00000562336
  gene symbol: COX4I1
  hgvsc: ENST00000562336.1:c.374-8C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000253452
  ensembl transcript: ENST00000253452
  gene symbol: COX4I1
  hgvsc: ENST00000253452.2:c.374-8C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000562929
  gene symbol: COX4I1
  hgvsc: ENST00000562929.1:n.159-8C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455301
  ensembl transcript: ENST00000566405
  gene symbol: COX4I1
  hgvsc: ENST00000566405.1:c.260-8C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000454714
  ensembl transcript: ENST00000564903
  gene symbol: COX4I1
  hgvsc: ENST00000564903.1:c.*858C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455030
  ensembl transcript: ENST00000568794
  gene symbol: COX4I1
  hgvsc: ENST00000568794.1:c.*228C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457015
  ensembl transcript: ENST00000561569
  gene symbol: COX4I1
  hgvsc: ENST00000561569.1:c.374-8C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000569997
  gene symbol: COX4I1
  hgvsc: ENST00000569997.1:n.3674C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000456452
  ensembl transcript: ENST00000564544
  gene symbol: COX4I1
  hgvsc: ENST00000564544.1:c.*171-97C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000568339
  gene symbol: COX4I1
  hgvsc: ENST00000568339.1:n.1999C>T
  variant of: http://identifiers.org/hgnc/2265
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7295
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12050
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2600
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8974
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3365
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11823
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5377
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3848
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.374-8C>T
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum

http://identifiers.org/exac.variant/16-85840337-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85840337
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 85840337
    reference: chr 16
allele count: 9
allele frequency: 7.419376112906417e-5
allele num: 121304
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000562929
  gene symbol: COX4I1
  hgvsc: ENST00000562929.1:n.159-7A>C
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000568339
  gene symbol: COX4I1
  hgvsc: ENST00000568339.1:n.2000A>C
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457513
  ensembl transcript: ENST00000562336
  gene symbol: COX4I1
  hgvsc: ENST00000562336.1:c.374-7A>C
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000564648
  gene symbol: COX4I1
  hgvsc: ENST00000564648.1:n.1006-7A>C
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455030
  ensembl transcript: ENST00000568794
  gene symbol: COX4I1
  hgvsc: ENST00000568794.1:c.*229A>C
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000569997
  gene symbol: COX4I1
  hgvsc: ENST00000569997.1:n.3675A>C
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000253452
  ensembl transcript: ENST00000253452
  gene symbol: COX4I1
  hgvsc: ENST00000253452.2:c.374-7A>C
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000454714
  ensembl transcript: ENST00000564903
  gene symbol: COX4I1
  hgvsc: ENST00000564903.1:c.*859A>C
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000456452
  ensembl transcript: ENST00000564544
  gene symbol: COX4I1
  hgvsc: ENST00000564544.1:c.*171-96A>C
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457015
  ensembl transcript: ENST00000561569
  gene symbol: COX4I1
  hgvsc: ENST00000561569.1:c.374-7A>C
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455301
  ensembl transcript: ENST00000566405
  gene symbol: COX4I1
  hgvsc: ENST00000566405.1:c.260-7A>C
  variant of: http://identifiers.org/hgnc/2265
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3847
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3362
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7296
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11827
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12046
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8972
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2601
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5377
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: c.374-7A>C
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD

16-85840339-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85840339
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 85840339
    reference: chr 16
allele count: 2
allele frequency: 1.64866870002473e-5
allele num: 121310
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455030
  ensembl transcript: ENST00000568794
  gene symbol: COX4I1
  hgvsc: ENST00000568794.1:c.*231C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000253452
  ensembl transcript: ENST00000253452
  gene symbol: COX4I1
  hgvsc: ENST00000253452.2:c.374-5C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457015
  ensembl transcript: ENST00000561569
  gene symbol: COX4I1
  hgvsc: ENST00000561569.1:c.374-5C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455301
  ensembl transcript: ENST00000566405
  gene symbol: COX4I1
  hgvsc: ENST00000566405.1:c.260-5C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457513
  ensembl transcript: ENST00000562336
  gene symbol: COX4I1
  hgvsc: ENST00000562336.1:c.374-5C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000568339
  gene symbol: COX4I1
  hgvsc: ENST00000568339.1:n.2002C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000562929
  gene symbol: COX4I1
  hgvsc: ENST00000562929.1:n.159-5C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000564648
  gene symbol: COX4I1
  hgvsc: ENST00000564648.1:n.1006-5C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000569997
  gene symbol: COX4I1
  hgvsc: ENST00000569997.1:n.3677C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000456452
  ensembl transcript: ENST00000564544
  gene symbol: COX4I1
  hgvsc: ENST00000564544.1:c.*171-94C>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000454714
  ensembl transcript: ENST00000564903
  gene symbol: COX4I1
  hgvsc: ENST00000564903.1:c.*861C>T
  variant of: http://identifiers.org/hgnc/2265
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11831
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3848
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12044
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8974
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5378
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3367
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7299
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2597
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.374-5C>T
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum

16-85840340-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85840340
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 85840340
    reference: chr 16
allele count: 4
allele frequency: 3.297283038776049e-5
allele num: 121312
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000568339
  gene symbol: COX4I1
  hgvsc: ENST00000568339.1:n.2003G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457015
  ensembl transcript: ENST00000561569
  gene symbol: COX4I1
  hgvsc: ENST00000561569.1:c.374-4G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457513
  ensembl transcript: ENST00000562336
  gene symbol: COX4I1
  hgvsc: ENST00000562336.1:c.374-4G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000564648
  gene symbol: COX4I1
  hgvsc: ENST00000564648.1:n.1006-4G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000562929
  gene symbol: COX4I1
  hgvsc: ENST00000562929.1:n.159-4G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000253452
  ensembl transcript: ENST00000253452
  gene symbol: COX4I1
  hgvsc: ENST00000253452.2:c.374-4G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000454714
  ensembl transcript: ENST00000564903
  gene symbol: COX4I1
  hgvsc: ENST00000564903.1:c.*862G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455301
  ensembl transcript: ENST00000566405
  gene symbol: COX4I1
  hgvsc: ENST00000566405.1:c.260-4G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455030
  ensembl transcript: ENST00000568794
  gene symbol: COX4I1
  hgvsc: ENST00000568794.1:c.*232G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000569997
  gene symbol: COX4I1
  hgvsc: ENST00000569997.1:n.3678G>A
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000456452
  ensembl transcript: ENST00000564544
  gene symbol: COX4I1
  hgvsc: ENST00000564544.1:c.*171-93G>A
  variant of: http://identifiers.org/hgnc/2265
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12047
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3374
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3845
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11836
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7296
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5376
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2595
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8975
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: c.374-4G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: African
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

16-85840340-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85840340
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 85840340
    reference: chr 16
allele count: 5
allele frequency: 4.121603798470061e-5
allele num: 121312
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455301
  ensembl transcript: ENST00000566405
  gene symbol: COX4I1
  hgvsc: ENST00000566405.1:c.260-4G>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457015
  ensembl transcript: ENST00000561569
  gene symbol: COX4I1
  hgvsc: ENST00000561569.1:c.374-4G>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000454714
  ensembl transcript: ENST00000564903
  gene symbol: COX4I1
  hgvsc: ENST00000564903.1:c.*862G>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000568339
  gene symbol: COX4I1
  hgvsc: ENST00000568339.1:n.2003G>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000253452
  ensembl transcript: ENST00000253452
  gene symbol: COX4I1
  hgvsc: ENST00000253452.2:c.374-4G>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000564648
  gene symbol: COX4I1
  hgvsc: ENST00000564648.1:n.1006-4G>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000562929
  gene symbol: COX4I1
  hgvsc: ENST00000562929.1:n.159-4G>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000457513
  ensembl transcript: ENST00000562336
  gene symbol: COX4I1
  hgvsc: ENST00000562336.1:c.374-4G>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000456452
  ensembl transcript: ENST00000564544
  gene symbol: COX4I1
  hgvsc: ENST00000564544.1:c.*171-93G>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000131143
  ensembl protein: ENSP00000455030
  ensembl transcript: ENST00000568794
  gene symbol: COX4I1
  hgvsc: ENST00000568794.1:c.*232G>T
  variant of: http://identifiers.org/hgnc/2265
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131143
  ensembl transcript: ENST00000569997
  gene symbol: COX4I1
  hgvsc: ENST00000569997.1:n.3678G>T
  variant of: http://identifiers.org/hgnc/2265
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7296
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2595
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8975
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3374
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12047
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11836
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3845
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5376
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.374-4G>T
num of homozygotes: 0
reference allele: G

GenotypeDepth
all individuals: 426
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3096
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35154
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3235
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 39
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 22
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7897
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3457
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3326
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2139
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2131
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66656
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.647526807333103e-5
allele num: 11564
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.541557e6

MQ
type: SiteQuality
SIO_000300: 5.957e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.055e0

MQRankSum
type: SiteQuality
SIO_000300: -1.72e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 2.876e0

QD
type: SiteQuality
SIO_000300: 1.489e1

VQSLOD
type: SiteQuality
SIO_000300: -2.696e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.87e0

GenotypeDepth
all individuals: 347
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 19
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2133
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3097
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7957
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 27
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3328
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3240
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 35157
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3471
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2139
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
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: 66672
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.543082e6

MQRankSum
type: SiteQuality
SIO_000300: 6.05e-1

MQ
type: SiteQuality
SIO_000300: 5.899e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.462e0

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.07e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.44e0

QD
type: SiteQuality
SIO_000300: 1.227e1

GenotypeDepth
all individuals: 3221
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 616
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7696
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 896
bin: 9.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3329
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2135
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2140
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3102
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 2.75e1
variant carriers: 0

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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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European (Finnish)
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Other
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East Asian
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South Asian
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European (Non-Finnish)
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FS
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DP
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MQ
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QD
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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

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

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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African
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Latino
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South Asian
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Other
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QD
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FS
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DP
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VQSLOD
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MQ
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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Latino
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European (Non-Finnish)
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European (Finnish)
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South Asian
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Other
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MQ
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VQSLOD
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QD
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MQRankSum
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DP
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FS
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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East Asian
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African
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European (Non-Finnish)
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South Asian
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MQ
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MQRankSum
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ClippingRankSum
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FS
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VQSLOD
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InbreedingCoeff
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DP
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QD
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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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European (Non-Finnish)
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European (Finnish)
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Latino
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African
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East Asian
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South Asian
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Other
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MQRankSum
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FS
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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MQ
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DP
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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African
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Other
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East Asian
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European (Finnish)
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Latino
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European (Non-Finnish)
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ClippingRankSum
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MQ
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InbreedingCoeff
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VQSLOD
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MQRankSum
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FS
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QD
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DP
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ReadPosRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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Other
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East Asian
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South Asian
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European (Finnish)
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FS
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VQSLOD
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MQ
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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DP
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QD
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ReadPosRankSum
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GenotypeQuality
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variant carriers: 13

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 66722
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South Asian
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Other
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European (Finnish)
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East Asian
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Latino
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African
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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DP
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BaseQRankSum
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FS
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MQRankSum
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QD
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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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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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num of homozygotes: 0

African
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European (Finnish)
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Other
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East Asian
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Latino
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South Asian
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ClippingRankSum
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FS
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BaseQRankSum
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ReadPosRankSum
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MQ
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MQRankSum
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QD
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VQSLOD
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DP
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Latino
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African
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European (Finnish)
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Other
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South Asian
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European (Non-Finnish)
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MQRankSum
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BaseQRankSum
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FS
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MQ
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VQSLOD
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DP
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ClippingRankSum
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QD
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ReadPosRankSum
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Latino
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African
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European (Finnish)
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South Asian
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Other
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European (Non-Finnish)
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DP
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ReadPosRankSum
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MQ
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InbreedingCoeff
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QD
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MQRankSum
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VQSLOD
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BaseQRankSum
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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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East Asian
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South Asian
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European (Non-Finnish)
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European (Finnish)
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African
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VQSLOD
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FS
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MQRankSum
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ClippingRankSum
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MQ
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QD
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InbreedingCoeff
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SIO_000300: -1.0e-4

BaseQRankSum
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DP
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ReadPosRankSum
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
allele frequency: 2.997961386257345e-5
allele num: 66712
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European (Finnish)
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South Asian
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Latino
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Other
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InbreedingCoeff
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VQSLOD
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MQRankSum
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DP
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ClippingRankSum
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QD
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FS
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BaseQRankSum
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MQ
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8.638562543192812e-5
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num of homozygotes: 0

European (Finnish)
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Other
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South Asian
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East Asian
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African
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European (Non-Finnish)
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MQ
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InbreedingCoeff
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BaseQRankSum
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QD
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FS
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MQRankSum
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VQSLOD
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ClippingRankSum
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DP
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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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GenotypeQuality
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African
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allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

European (Finnish)
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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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Latino
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ClippingRankSum
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SIO_000300: 2.32e-1

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

African
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allele num: 10404
num of homozygotes: 0

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

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

East Asian
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num of homozygotes: 0

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

East Asian
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Latino
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Other
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European (Non-Finnish)
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South Asian
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African
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FS
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BaseQRankSum
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DP
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QD
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VQSLOD
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MQRankSum
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InbreedingCoeff
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MQ
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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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Other
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European (Finnish)
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African
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European (Non-Finnish)
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East Asian
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South Asian
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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DP
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QD
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FS
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VQSLOD
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Latino
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East Asian
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African
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European (Non-Finnish)
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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MQ
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GenotypeQuality
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European (Non-Finnish)
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Latino
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South Asian
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ClippingRankSum
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QD
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DP
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FS
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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MQ
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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East Asian
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Latino
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African
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South Asian
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Other
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InbreedingCoeff
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QD
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ReadPosRankSum
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DP
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FS
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MQRankSum
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MQ
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Latino
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Other
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South Asian
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European (Non-Finnish)
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African
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ReadPosRankSum
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VQSLOD
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MQ
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DP
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FS
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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QD
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele num: 8654
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African
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Other
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South Asian
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Latino
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European (Finnish)
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European (Non-Finnish)
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ClippingRankSum
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DP
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FS
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MQRankSum
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QD
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VQSLOD
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MQ
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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African
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East Asian
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European (Non-Finnish)
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Latino
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European (Finnish)
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InbreedingCoeff
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DP
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FS
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BaseQRankSum
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VQSLOD
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QD
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MQ
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Latino
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East Asian
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European (Non-Finnish)
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European (Finnish)
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Other
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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MQ
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DP
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VQSLOD
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FS
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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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GenotypeQuality
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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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African
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East Asian
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European (Non-Finnish)
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Latino
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European (Finnish)
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BaseQRankSum
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QD
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VQSLOD
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MQRankSum
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InbreedingCoeff
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MQ
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FS
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ClippingRankSum
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DP
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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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European (Finnish)
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South Asian
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East Asian
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Latino
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African
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European (Non-Finnish)
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ClippingRankSum
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FS
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ReadPosRankSum
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BaseQRankSum
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QD
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MQRankSum
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VQSLOD
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InbreedingCoeff
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MQ
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 3068
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2095
bin: 7.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501231009427731e-5
allele num: 66612
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16412
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.151e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.28e-1

BaseQRankSum
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SIO_000300: -1.023e0

MQRankSum
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SIO_000300: 1.57e0

InbreedingCoeff
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QD
type: SiteQuality
SIO_000300: 9.93e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.536231e6

MQ
type: SiteQuality
SIO_000300: 5.952e1

VQSLOD
type: SiteQuality
SIO_000300: -2.297e-1

GenotypeQuality
all individuals: 35190
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.089392278650591e-5
allele num: 16422
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66622
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.399999999999999e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
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SIO_000300: 2.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.625e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.51e-1

DP
type: SiteQuality
SIO_000300: 2.53592e6

VQSLOD
type: SiteQuality
SIO_000300: 4.12e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.098e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.64e-1

GenotypeQuality
all individuals: 8
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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
all individuals: 3210
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variant carriers: 0

GenotypeQuality
all individuals: 2133
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16412
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501185936890143e-5
allele num: 66614
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.534242e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.62e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.879999999999999e-1

BaseQRankSum
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SIO_000300: 1.2e0

MQRankSum
type: SiteQuality
SIO_000300: -1.817e0

VQSLOD
type: SiteQuality
SIO_000300: -7.617e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.299999999999999e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 6.39e0

QD
type: SiteQuality
SIO_000300: 1.227e1

GenotypeQuality
all individuals: 2065
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 319
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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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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
all individuals: 35251
bin: 9.75e1
variant carriers: 168

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 334
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 531
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 166
allele frequency: 1.597075235712911e-2
allele num: 10394
num of homozygotes: 2

Latino
type: Population
allele count: 3
allele frequency: 2.592912705272256e-4
allele num: 11570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66586
num of homozygotes: 0

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

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

Other
type: Population
allele count: 1
allele frequency: 1.111111111111111e-3
allele num: 900
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.111e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.82e0

DP
type: SiteQuality
SIO_000300: 2.53228e6

QD
type: SiteQuality
SIO_000300: 1.453e1

MQ
type: SiteQuality
SIO_000300: 5.97e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.75e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.18e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.02e-1

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

GenotypeQuality
all individuals: 28
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 25
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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: 19
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 94
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variant carriers: 0

GenotypeQuality
all individuals: 35227
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16332
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66554
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.52717e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.66e0

QD
type: SiteQuality
SIO_000300: 6.44e0

FS
type: SiteQuality
SIO_000300: 5.348e0

MQRankSum
type: SiteQuality
SIO_000300: 8.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.61e-1

MQ
type: SiteQuality
SIO_000300: 5.923e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.56e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.25e-1

GenotypeQuality
all individuals: 479
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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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variant carriers: 0

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

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.622786759045419e-5
allele num: 10392
num of homozygotes: 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: 904
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 8.2e-1

VQSLOD
type: SiteQuality
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MQ
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SIO_000300: 5.658e1

MQRankSum
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SIO_000300: -4.621e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.41e-1

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 9.378e0

BaseQRankSum
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SIO_000300: -1.6e0

DP
type: SiteQuality
SIO_000300: 2.526349e6

GenotypeQuality
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bin: 8.75e1
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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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16270
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66542
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.622786759045419e-5
allele num: 10392
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.041e0

MQ
type: SiteQuality
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VQSLOD
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MQRankSum
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ClippingRankSum
type: SiteQuality
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FS
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QD
type: SiteQuality
SIO_000300: 1.5e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

DP
type: SiteQuality
SIO_000300: 2.525992e6

BaseQRankSum
type: SiteQuality
SIO_000300: -9.28e-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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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 428
bin: 2.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 2
allele frequency: 1.92492781520693e-4
allele num: 10390
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66532
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16296
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 2.6e-2

FS
type: SiteQuality
SIO_000300: 8.02e0

MQRankSum
type: SiteQuality
SIO_000300: -7.81e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.491e0

QD
type: SiteQuality
SIO_000300: 1.632e1

VQSLOD
type: SiteQuality
SIO_000300: -3.932e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

DP
type: SiteQuality
SIO_000300: 2.524169e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.82e-1

GenotypeQuality
all individuals: 34
bin: 4.25e1
variant carriers: 34

GenotypeQuality
all individuals: 1425
bin: 7.5e0
variant carriers: 1400

GenotypeQuality
all individuals: 241
bin: 2.25e1
variant carriers: 241

GenotypeQuality
all individuals: 124
bin: 8.25e1
variant carriers: 124

GenotypeQuality
all individuals: 4119
bin: 9.75e1
variant carriers: 4119

GenotypeQuality
all individuals: 56
bin: 2.5e0
variant carriers: 4

GenotypeQuality
all individuals: 68
bin: 3.25e1
variant carriers: 68

GenotypeQuality
all individuals: 547
bin: 1.75e1
variant carriers: 547

GenotypeQuality
all individuals: 51
bin: 6.75e1
variant carriers: 51

GenotypeQuality
all individuals: 183
bin: 7.75e1
variant carriers: 183

GenotypeQuality
all individuals: 44
bin: 3.75e1
variant carriers: 44

GenotypeQuality
all individuals: 32
bin: 4.75e1
variant carriers: 32

GenotypeQuality
all individuals: 62
bin: 2.75e1
variant carriers: 62

GenotypeQuality
all individuals: 254
bin: 8.75e1
variant carriers: 254

GenotypeQuality
all individuals: 73
bin: 5.75e1
variant carriers: 73

GenotypeQuality
all individuals: 728
bin: 1.25e1
variant carriers: 727

GenotypeQuality
all individuals: 80
bin: 6.25e1
variant carriers: 80

GenotypeQuality
all individuals: 318
bin: 9.25e1
variant carriers: 318

GenotypeQuality
all individuals: 138
bin: 7.25e1
variant carriers: 138

East Asian
type: Population
allele count: 174
allele frequency: 1.0e0
allele num: 174
num of homozygotes: 87

European (Non-Finnish)
type: Population
allele count: 2908
allele frequency: 1.0e0
allele num: 2908
num of homozygotes: 1454

African
type: Population
allele count: 211
allele frequency: 9.173913043478261e-1
allele num: 230
num of homozygotes: 96

Latino
type: Population
allele count: 110
allele frequency: 1.0e0
allele num: 110
num of homozygotes: 55

South Asian
type: Population
allele count: 7504
allele frequency: 9.997335464961364e-1
allele num: 7506
num of homozygotes: 3751

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

Other
type: Population
allele count: 118
allele frequency: 1.0e0
allele num: 118
num of homozygotes: 59

DP
type: SiteQuality
SIO_000300: 2.34668e5

MQ
type: SiteQuality
SIO_000300: 6.037e1

QD
type: SiteQuality
SIO_000300: 2.466e1

MQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.355e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.65e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.75e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

GenotypeQuality
all individuals: 6799
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 749
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variant carriers: 0

GenotypeQuality
all individuals: 249
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variant carriers: 0

GenotypeQuality
all individuals: 17
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 262
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 3.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 108
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 174
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2876
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 230
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.333333333333333e-4
allele num: 7500
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.874e0

DP
type: SiteQuality
SIO_000300: 2.06176e5

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.57e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.83e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.81e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.58e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.373e0

QD
type: SiteQuality
SIO_000300: 2.003e1

MQ
type: SiteQuality
SIO_000300: 6.024e1

GenotypeQuality
all individuals: 38
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 6911
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1319
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 747
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 230
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7502
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2890
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 108
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 174
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.001e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.87e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.73e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.73e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.367e0

QD
type: SiteQuality
SIO_000300: 1.637e1

DP
type: SiteQuality
SIO_000300: 2.06403e5

GenotypeQuality
all individuals: 321
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 373
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 227
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variant carriers: 0

GenotypeQuality
all individuals: 753
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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: 321
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1348
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7042
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 422
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variant carriers: 0

GenotypeQuality
all individuals: 564
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variant carriers: 0

GenotypeQuality
all individuals: 523
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variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1024
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 41
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 110
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2884
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 232
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 174
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 1.332267519317879e-4
allele num: 7506
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.06594e5

VQSLOD
type: SiteQuality
SIO_000300: -2.332e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.39e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e0

MQRankSum
type: SiteQuality
SIO_000300: -1.161e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

FS
type: SiteQuality
SIO_000300: 1.299e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.36e-1

QD
type: SiteQuality
SIO_000300: 1.551e1

GenotypeQuality
all individuals: 387
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 758
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 305
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variant carriers: 0

GenotypeQuality
all individuals: 1023
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 1421
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 564
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variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 521
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2888
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 230
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 110
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 174
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.332267519317879e-4
allele num: 7506
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.99e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.695e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.91e1

MQ
type: SiteQuality
SIO_000300: 5.949e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.660000000000001e-2

DP
type: SiteQuality
SIO_000300: 2.08815e5

VQSLOD
type: SiteQuality
SIO_000300: -2.529e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.24e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e0

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

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 420
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 244
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.332267519317879e-4
allele num: 7506
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 176
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 110
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2910
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.235e0

DP
type: SiteQuality
SIO_000300: 2.16169e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.820000000000001e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.279e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.04e0

QD
type: SiteQuality
SIO_000300: 1.071e1

VQSLOD
type: SiteQuality
SIO_000300: -9.588e-1

FS
type: SiteQuality
SIO_000300: 1.3751e1

MQ
type: SiteQuality
SIO_000300: 6.044e1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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: 1491
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2916
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 246
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 112
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 180
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.169e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.169999999999999e-2

MQ
type: SiteQuality
SIO_000300: 6.213e1

DP
type: SiteQuality
SIO_000300: 2.21946e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.31e-1

QD
type: SiteQuality
SIO_000300: 1.365e1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1022
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variant carriers: 1

GenotypeQuality
all individuals: 51
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
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GenotypeQuality
all individuals: 366
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 817
bin: 2.25e1
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African
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East Asian
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European (Non-Finnish)
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VQSLOD
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QD
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MQ
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FS
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Finnish)
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African
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European (Non-Finnish)
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South Asian
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MQ
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QD
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ReadPosRankSum
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MQRankSum
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FS
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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GenotypeQuality
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European (Finnish)
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South Asian
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African
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East Asian
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ClippingRankSum
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MQ
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FS
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BaseQRankSum
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DP
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MQRankSum
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VQSLOD
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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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East Asian
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European (Non-Finnish)
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African
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Latino
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European (Finnish)
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Other
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QD
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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VQSLOD
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FS
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MQ
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DP
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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East Asian
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Other
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African
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South Asian
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European (Non-Finnish)
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VQSLOD
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InbreedingCoeff
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MQRankSum
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QD
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ClippingRankSum
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FS
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DP
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MQ
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BaseQRankSum
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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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African
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European (Non-Finnish)
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European (Finnish)
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South Asian
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East Asian
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ReadPosRankSum
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FS
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BaseQRankSum
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MQ
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VQSLOD
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InbreedingCoeff
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DP
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QD
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South Asian
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European (Non-Finnish)
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African
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FS
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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QD
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VQSLOD
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MQ
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FS
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VQSLOD
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

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

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

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
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SIO_000300: 2.02e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.92e-1

QD
type: SiteQuality
SIO_000300: 1.132e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 9.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.53e-1

DP
type: SiteQuality
SIO_000300: 2.397788e6

VQSLOD
type: SiteQuality
SIO_000300: -9.582000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.897e1

GenotypeQuality
all individuals: 20046
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 5.25e1
variant carriers: 0

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

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 9.58e-1

VQSLOD
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QD
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.92e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.53e-1

DP
type: SiteQuality
SIO_000300: 2.397788e6

MQ
type: SiteQuality
SIO_000300: 5.897e1

MQRankSum
type: SiteQuality
SIO_000300: 2.02e0

GenotypeQuality
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bin: 8.25e1
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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bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20049
bin: 9.75e1
variant carriers: 9

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 8
allele frequency: 4.845548152634767e-4
allele num: 16510
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 9.379999999999999e-1

DP
type: SiteQuality
SIO_000300: 2.397978e6

FS
type: SiteQuality
SIO_000300: 1.952e0

VQSLOD
type: SiteQuality
SIO_000300: 4.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.19e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.42e-1

InbreedingCoeff
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SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -8.65e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

QD
type: SiteQuality
SIO_000300: 9.19e0

GenotypeQuality
all individuals: 30
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2310
bin: 8.75e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.000300030003e-5
allele num: 66660
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

DP
type: SiteQuality
SIO_000300: 2.397894e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.78e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.840000000000001e-1

BaseQRankSum
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SIO_000300: 1.9e0

MQRankSum
type: SiteQuality
SIO_000300: -1.93e-1

QD
type: SiteQuality
SIO_000300: 9.35e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

FS
type: SiteQuality
SIO_000300: 1.1e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.36e-1

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2310
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5096
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.5004500450045e-5
allele num: 66660
num of homozygotes: 0

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

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

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 5.639999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

VQSLOD
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SIO_000300: 1.76e0

QD
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.39e-1

ReadPosRankSum
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SIO_000300: 1.17e0

DP
type: SiteQuality
SIO_000300: 2.398043e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.005e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0