12-120947853-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120947853
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120947853
    reference: chr 12
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449874
  ensembl transcript: ENST00000547943
  gene symbol: COQ5
  hgvsc: ENST00000547943.1:c.498C>T
  hgvsp: ENST00000547943.1:c.498C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000401798
  ensembl transcript: ENST00000445328
  gene symbol: COQ5
  hgvsc: ENST00000445328.2:c.426C>T
  hgvsp: ENST00000445328.2:c.426C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110871
  ensembl transcript: ENST00000546838
  gene symbol: COQ5
  hgvsc: ENST00000546838.1:n.192C>T
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449863
  ensembl transcript: ENST00000552443
  gene symbol: COQ5
  hgvsc: ENST00000552443.1:c.405C>T
  hgvsp: ENST00000552443.1:c.405C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000288532
  ensembl transcript: ENST00000288532
  gene symbol: COQ5
  hgvsc: ENST00000288532.6:c.648C>T
  hgvsp: ENST00000288532.6:c.648C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28722
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8964
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6102
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4322
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6811
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7825
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8805
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7575
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3006
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2316
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4782
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29553
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3499
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala216Ala
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: DP

12-120947861-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120947861
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120947861
    reference: chr 12
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110871
  ensembl transcript: ENST00000546838
  gene symbol: COQ5
  hgvsc: ENST00000546838.1:n.184A>G
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449874
  ensembl transcript: ENST00000547943
  gene symbol: COQ5
  hgvsc: ENST00000547943.1:c.490A>G
  hgvsp: ENSP00000449874.1:p.Thr164Ala
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449863
  ensembl transcript: ENST00000552443
  gene symbol: COQ5
  hgvsc: ENST00000552443.1:c.397A>G
  hgvsp: ENSP00000449863.1:p.Thr133Ala
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000401798
  ensembl transcript: ENST00000445328
  gene symbol: COQ5
  hgvsc: ENST00000445328.2:c.418A>G
  hgvsp: ENSP00000401798.2:p.Thr140Ala
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000288532
  ensembl transcript: ENST00000288532
  gene symbol: COQ5
  hgvsc: ENST00000288532.6:c.640A>G
  hgvsp: ENSP00000288532.6:p.Thr214Ala
  variant of: http://identifiers.org/hgnc/28722
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6800
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8816
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8967
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7574
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6100
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4322
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3006
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7826
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4175
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3498
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9696
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4779
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29554
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Thr214Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/12-120947874-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120947874
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120947874
    reference: chr 12
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449863
  ensembl transcript: ENST00000552443
  gene symbol: COQ5
  hgvsc: ENST00000552443.1:c.384G>T
  hgvsp: ENSP00000449863.1:p.Lys128Asn
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000288532
  ensembl transcript: ENST00000288532
  gene symbol: COQ5
  hgvsc: ENST00000288532.6:c.627G>T
  hgvsp: ENSP00000288532.6:p.Lys209Asn
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110871
  ensembl transcript: ENST00000546838
  gene symbol: COQ5
  hgvsc: ENST00000546838.1:n.171G>T
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000401798
  ensembl transcript: ENST00000445328
  gene symbol: COQ5
  hgvsc: ENST00000445328.2:c.405G>T
  hgvsp: ENSP00000401798.2:p.Lys135Asn
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000450001
  ensembl transcript: ENST00000551769
  gene symbol: COQ5
  hgvsc: ENST00000551769.1:c.384G>T
  hgvsp: ENSP00000450001.1:p.Lys128Asn
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449874
  ensembl transcript: ENST00000547943
  gene symbol: COQ5
  hgvsc: ENST00000547943.1:c.477G>T
  hgvsp: ENSP00000449874.1:p.Lys159Asn
  variant of: http://identifiers.org/hgnc/28722
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8967
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7575
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6101
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7826
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8825
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6797
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3006
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4322
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1922
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2706
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Lys209Asn
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

12-120947875-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120947875
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120947875
    reference: chr 12
allele count: 2
allele frequency: 1.647527884409444e-5
allele num: 121394
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449863
  ensembl transcript: ENST00000552443
  gene symbol: COQ5
  hgvsc: ENST00000552443.1:c.383A>G
  hgvsp: ENSP00000449863.1:p.Lys128Arg
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000450001
  ensembl transcript: ENST00000551769
  gene symbol: COQ5
  hgvsc: ENST00000551769.1:c.383A>G
  hgvsp: ENSP00000450001.1:p.Lys128Arg
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000288532
  ensembl transcript: ENST00000288532
  gene symbol: COQ5
  hgvsc: ENST00000288532.6:c.626A>G
  hgvsp: ENSP00000288532.6:p.Lys209Arg
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000401798
  ensembl transcript: ENST00000445328
  gene symbol: COQ5
  hgvsc: ENST00000445328.2:c.404A>G
  hgvsp: ENSP00000401798.2:p.Lys135Arg
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449874
  ensembl transcript: ENST00000547943
  gene symbol: COQ5
  hgvsc: ENST00000547943.1:c.476A>G
  hgvsp: ENSP00000449874.1:p.Lys159Arg
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110871
  ensembl transcript: ENST00000546838
  gene symbol: COQ5
  hgvsc: ENST00000546838.1:n.170A>G
  variant of: http://identifiers.org/hgnc/28722
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8967
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7827
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6796
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3006
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8825
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4322
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6100
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7574
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1922
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4782
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3497
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3910
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4174
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29556
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Lys209Arg
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/12-120947880-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120947880
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120947880
    reference: chr 12
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000288532
  ensembl transcript: ENST00000288532
  gene symbol: COQ5
  hgvsc: ENST00000288532.6:c.621T>G
  hgvsp: ENSP00000288532.6:p.Asp207Glu
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449874
  ensembl transcript: ENST00000547943
  gene symbol: COQ5
  hgvsc: ENST00000547943.1:c.471T>G
  hgvsp: ENSP00000449874.1:p.Asp157Glu
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000450001
  ensembl transcript: ENST00000551769
  gene symbol: COQ5
  hgvsc: ENST00000551769.1:c.378T>G
  hgvsp: ENSP00000450001.1:p.Asp126Glu
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449863
  ensembl transcript: ENST00000552443
  gene symbol: COQ5
  hgvsc: ENST00000552443.1:c.378T>G
  hgvsp: ENSP00000449863.1:p.Asp126Glu
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000401798
  ensembl transcript: ENST00000445328
  gene symbol: COQ5
  hgvsc: ENST00000445328.2:c.399T>G
  hgvsp: ENSP00000401798.2:p.Asp133Glu
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110871
  ensembl transcript: ENST00000546838
  gene symbol: COQ5
  hgvsc: ENST00000546838.1:n.165T>G
  variant of: http://identifiers.org/hgnc/28722
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7574
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8966
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6100
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8824
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3006
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7825
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4323
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6797
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1922
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4783
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4172
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2316
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2707
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asp207Glu
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

12-120947881-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120947881
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120947881
    reference: chr 12
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110871
  ensembl transcript: ENST00000546838
  gene symbol: COQ5
  hgvsc: ENST00000546838.1:n.164A>G
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449863
  ensembl transcript: ENST00000552443
  gene symbol: COQ5
  hgvsc: ENST00000552443.1:c.377A>G
  hgvsp: ENSP00000449863.1:p.Asp126Gly
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000450001
  ensembl transcript: ENST00000551769
  gene symbol: COQ5
  hgvsc: ENST00000551769.1:c.377A>G
  hgvsp: ENSP00000450001.1:p.Asp126Gly
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449874
  ensembl transcript: ENST00000547943
  gene symbol: COQ5
  hgvsc: ENST00000547943.1:c.470A>G
  hgvsp: ENSP00000449874.1:p.Asp157Gly
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000288532
  ensembl transcript: ENST00000288532
  gene symbol: COQ5
  hgvsc: ENST00000288532.6:c.620A>G
  hgvsp: ENSP00000288532.6:p.Asp207Gly
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000401798
  ensembl transcript: ENST00000445328
  gene symbol: COQ5
  hgvsc: ENST00000445328.2:c.398A>G
  hgvsp: ENSP00000401798.2:p.Asp133Gly
  variant of: http://identifiers.org/hgnc/28722
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3006
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1922
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8823
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6100
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7575
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6799
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7826
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8965
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4323
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29556
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asp207Gly
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD

12-120947882-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120947882
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120947882
    reference: chr 12
allele count: 2
allele frequency: 1.647500741375333e-5
allele num: 121396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000401798
  ensembl transcript: ENST00000445328
  gene symbol: COQ5
  hgvsc: ENST00000445328.2:c.397G>A
  hgvsp: ENSP00000401798.2:p.Asp133Asn
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449863
  ensembl transcript: ENST00000552443
  gene symbol: COQ5
  hgvsc: ENST00000552443.1:c.376G>A
  hgvsp: ENSP00000449863.1:p.Asp126Asn
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449874
  ensembl transcript: ENST00000547943
  gene symbol: COQ5
  hgvsc: ENST00000547943.1:c.469G>A
  hgvsp: ENSP00000449874.1:p.Asp157Asn
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000288532
  ensembl transcript: ENST00000288532
  gene symbol: COQ5
  hgvsc: ENST00000288532.6:c.619G>A
  hgvsp: ENSP00000288532.6:p.Asp207Asn
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110871
  ensembl transcript: ENST00000546838
  gene symbol: COQ5
  hgvsc: ENST00000546838.1:n.163G>A
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000450001
  ensembl transcript: ENST00000551769
  gene symbol: COQ5
  hgvsc: ENST00000551769.1:c.376G>A
  hgvsp: ENSP00000450001.1:p.Asp126Asn
  variant of: http://identifiers.org/hgnc/28722
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8966
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8826
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7825
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4323
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7574
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6101
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3006
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6793
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1922
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9698
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2316
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2706
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4782
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3497
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asp207Asn
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-120947889-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120947889
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120947889
    reference: chr 12
allele count: 25
allele frequency: 2.059375926719167e-4
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110871
  ensembl transcript: ENST00000546838
  gene symbol: COQ5
  hgvsc: ENST00000546838.1:n.156C>T
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000401798
  ensembl transcript: ENST00000445328
  gene symbol: COQ5
  hgvsc: ENST00000445328.2:c.390C>T
  hgvsp: ENST00000445328.2:c.390C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449874
  ensembl transcript: ENST00000547943
  gene symbol: COQ5
  hgvsc: ENST00000547943.1:c.462C>T
  hgvsp: ENST00000547943.1:c.462C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000288532
  ensembl transcript: ENST00000288532
  gene symbol: COQ5
  hgvsc: ENST00000288532.6:c.612C>T
  hgvsp: ENST00000288532.6:c.612C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000450001
  ensembl transcript: ENST00000551769
  gene symbol: COQ5
  hgvsc: ENST00000551769.1:c.369C>T
  hgvsp: ENST00000551769.1:c.369C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449863
  ensembl transcript: ENST00000552443
  gene symbol: COQ5
  hgvsc: ENST00000552443.1:c.369C>T
  hgvsp: ENST00000552443.1:c.369C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28722
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4322
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7831
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8963
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7573
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6094
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6793
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1923
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8822
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3006
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2706
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4777
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3496
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro204Pro
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

12-120947894-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120947894
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120947894
    reference: chr 12
allele count: 2
allele frequency: 1.647473599235572e-5
allele num: 121398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449863
  ensembl transcript: ENST00000552443
  gene symbol: COQ5
  hgvsc: ENST00000552443.1:c.364C>T
  hgvsp: ENST00000552443.1:c.364C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000288532
  ensembl transcript: ENST00000288532
  gene symbol: COQ5
  hgvsc: ENST00000288532.6:c.607C>T
  hgvsp: ENST00000288532.6:c.607C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000450001
  ensembl transcript: ENST00000551769
  gene symbol: COQ5
  hgvsc: ENST00000551769.1:c.364C>T
  hgvsp: ENST00000551769.1:c.364C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000401798
  ensembl transcript: ENST00000445328
  gene symbol: COQ5
  hgvsc: ENST00000445328.2:c.385C>T
  hgvsp: ENST00000445328.2:c.385C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110871
  ensembl transcript: ENST00000546838
  gene symbol: COQ5
  hgvsc: ENST00000546838.1:n.151C>T
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449874
  ensembl transcript: ENST00000547943
  gene symbol: COQ5
  hgvsc: ENST00000547943.1:c.457C>T
  hgvsp: ENST00000547943.1:c.457C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28722
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4330
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8834
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8967
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7574
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7826
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6773
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3008
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6096
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1923
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2316
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4772
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3498
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9705
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu203Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD

12-120947897-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120947897
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120947897
    reference: chr 12
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449874
  ensembl transcript: ENST00000547943
  gene symbol: COQ5
  hgvsc: ENST00000547943.1:c.454G>C
  hgvsp: ENSP00000449874.1:p.Glu152Gln
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000288532
  ensembl transcript: ENST00000288532
  gene symbol: COQ5
  hgvsc: ENST00000288532.6:c.604G>C
  hgvsp: ENSP00000288532.6:p.Glu202Gln
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110871
  ensembl transcript: ENST00000546838
  gene symbol: COQ5
  hgvsc: ENST00000546838.1:n.148G>C
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449863
  ensembl transcript: ENST00000552443
  gene symbol: COQ5
  hgvsc: ENST00000552443.1:c.361G>C
  hgvsp: ENSP00000449863.1:p.Glu121Gln
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000401798
  ensembl transcript: ENST00000445328
  gene symbol: COQ5
  hgvsc: ENST00000445328.2:c.382G>C
  hgvsp: ENSP00000401798.2:p.Glu128Gln
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000450001
  ensembl transcript: ENST00000551769
  gene symbol: COQ5
  hgvsc: ENST00000551769.1:c.361G>C
  hgvsp: ENSP00000450001.1:p.Glu121Gln
  variant of: http://identifiers.org/hgnc/28722
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4331
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6097
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8964
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8829
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6768
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1923
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7574
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3008
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7826
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29559
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2316
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4771
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3908
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu202Gln
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQ

12-120947898-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120947898
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120947898
    reference: chr 12
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000288532
  ensembl transcript: ENST00000288532
  gene symbol: COQ5
  hgvsc: ENST00000288532.6:c.603A>G
  hgvsp: ENST00000288532.6:c.603A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000401798
  ensembl transcript: ENST00000445328
  gene symbol: COQ5
  hgvsc: ENST00000445328.2:c.381A>G
  hgvsp: ENST00000445328.2:c.381A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449874
  ensembl transcript: ENST00000547943
  gene symbol: COQ5
  hgvsc: ENST00000547943.1:c.453A>G
  hgvsp: ENST00000547943.1:c.453A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000450001
  ensembl transcript: ENST00000551769
  gene symbol: COQ5
  hgvsc: ENST00000551769.1:c.360A>G
  hgvsp: ENST00000551769.1:c.360A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110871
  ensembl transcript: ENST00000546838
  gene symbol: COQ5
  hgvsc: ENST00000546838.1:n.147A>G
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449863
  ensembl transcript: ENST00000552443
  gene symbol: COQ5
  hgvsc: ENST00000552443.1:c.360A>G
  hgvsp: ENST00000552443.1:c.360A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28722
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7826
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8962
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8834
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7573
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6096
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4332
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1923
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3008
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6767
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9700
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2707
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Glu201Glu
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

12-120947899-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120947899
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120947899
    reference: chr 12
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449874
  ensembl transcript: ENST00000547943
  gene symbol: COQ5
  hgvsc: ENST00000547943.1:c.452A>G
  hgvsp: ENSP00000449874.1:p.Glu151Gly
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000450001
  ensembl transcript: ENST00000551769
  gene symbol: COQ5
  hgvsc: ENST00000551769.1:c.359A>G
  hgvsp: ENSP00000450001.1:p.Glu120Gly
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110871
  ensembl transcript: ENST00000546838
  gene symbol: COQ5
  hgvsc: ENST00000546838.1:n.146A>G
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000401798
  ensembl transcript: ENST00000445328
  gene symbol: COQ5
  hgvsc: ENST00000445328.2:c.380A>G
  hgvsp: ENSP00000401798.2:p.Glu127Gly
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449863
  ensembl transcript: ENST00000552443
  gene symbol: COQ5
  hgvsc: ENST00000552443.1:c.359A>G
  hgvsp: ENSP00000449863.1:p.Glu120Gly
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000288532
  ensembl transcript: ENST00000288532
  gene symbol: COQ5
  hgvsc: ENST00000288532.6:c.602A>G
  hgvsp: ENSP00000288532.6:p.Glu201Gly
  variant of: http://identifiers.org/hgnc/28722
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7573
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7827
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8962
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6096
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4332
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8835
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6764
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3008
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1923
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4174
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4772
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3498
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2316
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Glu201Gly
num of homozygotes: 0
population: African
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

12-120947905-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120947905
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120947905
    reference: chr 12
allele count: 5
allele frequency: 4.118887570844866e-5
allele num: 121392
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000401798
  ensembl transcript: ENST00000445328
  gene symbol: COQ5
  hgvsc: ENST00000445328.2:c.374A>T
  hgvsp: ENSP00000401798.2:p.Asp125Val
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000288532
  ensembl transcript: ENST00000288532
  gene symbol: COQ5
  hgvsc: ENST00000288532.6:c.596A>T
  hgvsp: ENSP00000288532.6:p.Asp199Val
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000450001
  ensembl transcript: ENST00000551769
  gene symbol: COQ5
  hgvsc: ENST00000551769.1:c.353A>T
  hgvsp: ENSP00000450001.1:p.Asp118Val
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449863
  ensembl transcript: ENST00000552443
  gene symbol: COQ5
  hgvsc: ENST00000552443.1:c.353A>T
  hgvsp: ENSP00000449863.1:p.Asp118Val
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110871
  ensembl transcript: ENST00000546838
  gene symbol: COQ5
  hgvsc: ENST00000546838.1:n.140A>T
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449874
  ensembl transcript: ENST00000547943
  gene symbol: COQ5
  hgvsc: ENST00000547943.1:c.446A>T
  hgvsp: ENSP00000449874.1:p.Asp149Val
  variant of: http://identifiers.org/hgnc/28722
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3009
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7572
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6739
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1923
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6096
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8834
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4332
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7828
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8962
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2706
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4767
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9673
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asp199Val
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

12-120947919-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120947919
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120947919
    reference: chr 12
allele count: 2
allele frequency: 1.647636465490254e-5
allele num: 121386
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000450001
  ensembl transcript: ENST00000551769
  gene symbol: COQ5
  hgvsc: ENST00000551769.1:c.339A>G
  hgvsp: ENST00000551769.1:c.339A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110871
  ensembl transcript: ENST00000546838
  gene symbol: COQ5
  hgvsc: ENST00000546838.1:n.126A>G
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449863
  ensembl transcript: ENST00000552443
  gene symbol: COQ5
  hgvsc: ENST00000552443.1:c.339A>G
  hgvsp: ENST00000552443.1:c.339A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000401798
  ensembl transcript: ENST00000445328
  gene symbol: COQ5
  hgvsc: ENST00000445328.2:c.360A>G
  hgvsp: ENST00000445328.2:c.360A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449874
  ensembl transcript: ENST00000547943
  gene symbol: COQ5
  hgvsc: ENST00000547943.1:c.432A>G
  hgvsp: ENST00000547943.1:c.432A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000288532
  ensembl transcript: ENST00000288532
  gene symbol: COQ5
  hgvsc: ENST00000288532.6:c.582A>G
  hgvsp: ENST00000288532.6:c.582A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28722
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4331
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3009
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7583
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6597
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7828
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6097
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8969
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8827
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3498
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3912
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4164
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala194Ala
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum

12-120947925-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120947925
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120947925
    reference: chr 12
allele count: 2
allele frequency: 1.64766361299677e-5
allele num: 121384
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449863
  ensembl transcript: ENST00000552443
  gene symbol: COQ5
  hgvsc: ENST00000552443.1:c.333A>G
  hgvsp: ENST00000552443.1:c.333A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449874
  ensembl transcript: ENST00000547943
  gene symbol: COQ5
  hgvsc: ENST00000547943.1:c.426A>G
  hgvsp: ENST00000547943.1:c.426A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000288532
  ensembl transcript: ENST00000288532
  gene symbol: COQ5
  hgvsc: ENST00000288532.6:c.576A>G
  hgvsp: ENST00000288532.6:c.576A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000450001
  ensembl transcript: ENST00000551769
  gene symbol: COQ5
  hgvsc: ENST00000551769.1:c.333A>G
  hgvsp: ENST00000551769.1:c.333A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000110871
  ensembl transcript: ENST00000546838
  gene symbol: COQ5
  hgvsc: ENST00000546838.1:n.120A>G
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000401798
  ensembl transcript: ENST00000445328
  gene symbol: COQ5
  hgvsc: ENST00000445328.2:c.354A>G
  hgvsp: ENST00000445328.2:c.354A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28722
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8958
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7583
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6506
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1925
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3009
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8815
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6096
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4331
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7828
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4709
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9438
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
hgvs: c.576A>G
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum

12-120947933-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120947933
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120947933
    reference: chr 12
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000288532
  ensembl transcript: ENST00000288532
  gene symbol: COQ5
  hgvsc: ENST00000288532.6:c.575-7C>T
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449874
  ensembl transcript: ENST00000547943
  gene symbol: COQ5
  hgvsc: ENST00000547943.1:c.425-7C>T
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000401798
  ensembl transcript: ENST00000445328
  gene symbol: COQ5
  hgvsc: ENST00000445328.2:c.353-7C>T
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449863
  ensembl transcript: ENST00000552443
  gene symbol: COQ5
  hgvsc: ENST00000552443.1:c.332-7C>T
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000450001
  ensembl transcript: ENST00000551769
  gene symbol: COQ5
  hgvsc: ENST00000551769.1:c.332-7C>T
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl transcript: ENST00000546838
  gene symbol: COQ5
  hgvsc: ENST00000546838.1:n.119-7C>T
  variant of: http://identifiers.org/hgnc/28722
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6118
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8819
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1958
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8544
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3028
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6061
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4350
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7517
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7980
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8834
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3837
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
hgvs: c.575-7C>T
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

12-120947933-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120947933
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120947933
    reference: chr 12
allele count: 1186
allele frequency: 9.771933293784193e-3
allele num: 121368
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000401798
  ensembl transcript: ENST00000445328
  gene symbol: COQ5
  hgvsc: ENST00000445328.2:c.353-7C>G
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000288532
  ensembl transcript: ENST00000288532
  gene symbol: COQ5
  hgvsc: ENST00000288532.6:c.575-7C>G
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449874
  ensembl transcript: ENST00000547943
  gene symbol: COQ5
  hgvsc: ENST00000547943.1:c.425-7C>G
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000450001
  ensembl transcript: ENST00000551769
  gene symbol: COQ5
  hgvsc: ENST00000551769.1:c.332-7C>G
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl transcript: ENST00000546838
  gene symbol: COQ5
  hgvsc: ENST00000546838.1:n.119-7C>G
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449863
  ensembl transcript: ENST00000552443
  gene symbol: COQ5
  hgvsc: ENST00000552443.1:c.332-7C>G
  variant of: http://identifiers.org/hgnc/28722
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1958
  bin: 5.75e1
  variant carriers: 75
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 6.75e1
  variant carriers: 72
genotype depth: GenotypeDepth
  all individuals: 4350
  bin: 4.75e1
  variant carriers: 73
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 7.75e1
  variant carriers: 58
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 8.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 6.25e1
  variant carriers: 84
genotype depth: GenotypeDepth
  all individuals: 7517
  bin: 3.75e1
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 7.25e1
  variant carriers: 61
genotype depth: GenotypeDepth
  all individuals: 8819
  bin: 3.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 9.25e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 8544
  bin: 2.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 3028
  bin: 5.25e1
  variant carriers: 71
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 8.75e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 6118
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 6061
  bin: 4.25e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 7980
  bin: 9.75e1
  variant carriers: 305
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3837
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2641
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4082
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4579
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.75e1
  variant carriers: 0
hgvs: c.575-7C>G
num of homozygotes: 68
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: ReadPosRankSum

12-120947938-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120947938
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120947938
    reference: chr 12
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000450001
  ensembl transcript: ENST00000551769
  gene symbol: COQ5
  hgvsc: ENST00000551769.1:c.332-12T>C
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000288532
  ensembl transcript: ENST00000288532
  gene symbol: COQ5
  hgvsc: ENST00000288532.6:c.575-12T>C
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449874
  ensembl transcript: ENST00000547943
  gene symbol: COQ5
  hgvsc: ENST00000547943.1:c.425-12T>C
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449863
  ensembl transcript: ENST00000552443
  gene symbol: COQ5
  hgvsc: ENST00000552443.1:c.332-12T>C
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000401798
  ensembl transcript: ENST00000445328
  gene symbol: COQ5
  hgvsc: ENST00000445328.2:c.353-12T>C
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl transcript: ENST00000546838
  gene symbol: COQ5
  hgvsc: ENST00000546838.1:n.119-12T>C
  variant of: http://identifiers.org/hgnc/28722
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7551
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6282
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7882
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8308
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1949
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4368
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8832
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6099
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3056
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3879
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2646
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29677
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2300
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4527
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

12-120947948-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120947948
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120947948
    reference: chr 12
allele count: 118443
allele frequency: 9.762053902579741e-1
allele num: 121330
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449874
  ensembl transcript: ENST00000547943
  gene symbol: COQ5
  hgvsc: ENST00000547943.1:c.425-22C>T
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000401798
  ensembl transcript: ENST00000445328
  gene symbol: COQ5
  hgvsc: ENST00000445328.2:c.353-22C>T
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000450001
  ensembl transcript: ENST00000551769
  gene symbol: COQ5
  hgvsc: ENST00000551769.1:c.332-22C>T
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl transcript: ENST00000546838
  gene symbol: COQ5
  hgvsc: ENST00000546838.1:n.119-22C>T
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000288532
  ensembl transcript: ENST00000288532
  gene symbol: COQ5
  hgvsc: ENST00000288532.6:c.575-22C>T
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449863
  ensembl transcript: ENST00000552443
  gene symbol: COQ5
  hgvsc: ENST00000552443.1:c.332-22C>T
  variant of: http://identifiers.org/hgnc/28722
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 4518
  bin: 5.75e1
  variant carriers: 4516
genotype depth: GenotypeDepth
  all individuals: 3684
  bin: 2.75e1
  variant carriers: 3642
genotype depth: GenotypeDepth
  all individuals: 6639
  bin: 4.25e1
  variant carriers: 6635
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.25e1
  variant carriers: 187
genotype depth: GenotypeDepth
  all individuals: 6709
  bin: 4.75e1
  variant carriers: 6705
genotype depth: GenotypeDepth
  all individuals: 3223
  bin: 6.25e1
  variant carriers: 3222
genotype depth: GenotypeDepth
  all individuals: 2137
  bin: 6.75e1
  variant carriers: 2137
genotype depth: GenotypeDepth
  all individuals: 9865
  bin: 9.75e1
  variant carriers: 9858
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 1.75e1
  variant carriers: 820
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 7.75e1
  variant carriers: 950
genotype depth: GenotypeDepth
  all individuals: 5824
  bin: 5.25e1
  variant carriers: 5822
genotype depth: GenotypeDepth
  all individuals: 2027
  bin: 2.25e1
  variant carriers: 2017
genotype depth: GenotypeDepth
  all individuals: 4904
  bin: 3.25e1
  variant carriers: 4884
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 8.25e1
  variant carriers: 690
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6059
  bin: 3.75e1
  variant carriers: 6053
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 8.75e1
  variant carriers: 570
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 7.25e1
  variant carriers: 1353
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 9.25e1
  variant carriers: 518
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 3.75e1
  variant carriers: 88
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 7.25e1
  variant carriers: 511
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 5.25e1
  variant carriers: 370
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.25e1
  variant carriers: 57
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.25e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 1792
  bin: 9.25e1
  variant carriers: 1792
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 4.75e1
  variant carriers: 209
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 5.75e1
  variant carriers: 267
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 2
num of homozygotes: 57885
population: African
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

12-120947961-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120947961
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120947961
    reference: chr 12
allele count: 5
allele frequency: 4.179972913775519e-5
allele num: 119618
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl transcript: ENST00000546838
  gene symbol: COQ5
  hgvsc: ENST00000546838.1:n.119-35C>T
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449874
  ensembl transcript: ENST00000547943
  gene symbol: COQ5
  hgvsc: ENST00000547943.1:c.425-35C>T
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000450001
  ensembl transcript: ENST00000551769
  gene symbol: COQ5
  hgvsc: ENST00000551769.1:c.332-35C>T
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449863
  ensembl transcript: ENST00000552443
  gene symbol: COQ5
  hgvsc: ENST00000552443.1:c.332-35C>T
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000401798
  ensembl transcript: ENST00000445328
  gene symbol: COQ5
  hgvsc: ENST00000445328.2:c.353-35C>T
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000288532
  ensembl transcript: ENST00000288532
  gene symbol: COQ5
  hgvsc: ENST00000288532.6:c.575-35C>T
  variant of: http://identifiers.org/hgnc/28722
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10690
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5576
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4466
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1774
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3959
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5700
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17046
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3664
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3496
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1081
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6425
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11841
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1783
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3035
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum

12-120947963-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120947963
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120947963
    reference: chr 12
allele count: 2
allele frequency: 1.673528132007899e-5
allele num: 119508
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000288532
  ensembl transcript: ENST00000288532
  gene symbol: COQ5
  hgvsc: ENST00000288532.6:c.575-37A>G
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl transcript: ENST00000546838
  gene symbol: COQ5
  hgvsc: ENST00000546838.1:n.119-37A>G
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000450001
  ensembl transcript: ENST00000551769
  gene symbol: COQ5
  hgvsc: ENST00000551769.1:c.332-37A>G
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449874
  ensembl transcript: ENST00000547943
  gene symbol: COQ5
  hgvsc: ENST00000547943.1:c.425-37A>G
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000401798
  ensembl transcript: ENST00000445328
  gene symbol: COQ5
  hgvsc: ENST00000445328.2:c.353-37A>G
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449863
  ensembl transcript: ENST00000552443
  gene symbol: COQ5
  hgvsc: ENST00000552443.1:c.332-37A>G
  variant of: http://identifiers.org/hgnc/28722
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3959
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5928
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7773
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1748
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15569
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9668
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4645
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3507
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18348
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3298
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1957
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2562
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11836
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3655
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2001
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1074
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP

12-120947965-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120947965
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120947965
    reference: chr 12
allele count: 4
allele frequency: 3.351824230337361e-5
allele num: 119338
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000450001
  ensembl transcript: ENST00000551769
  gene symbol: COQ5
  hgvsc: ENST00000551769.1:c.332-39C>T
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449863
  ensembl transcript: ENST00000552443
  gene symbol: COQ5
  hgvsc: ENST00000552443.1:c.332-39C>T
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449874
  ensembl transcript: ENST00000547943
  gene symbol: COQ5
  hgvsc: ENST00000547943.1:c.425-39C>T
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000401798
  ensembl transcript: ENST00000445328
  gene symbol: COQ5
  hgvsc: ENST00000445328.2:c.353-39C>T
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000288532
  ensembl transcript: ENST00000288532
  gene symbol: COQ5
  hgvsc: ENST00000288532.6:c.575-39C>T
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl transcript: ENST00000546838
  gene symbol: COQ5
  hgvsc: ENST00000546838.1:n.119-39C>T
  variant of: http://identifiers.org/hgnc/28722
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14965
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1746
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8550
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3465
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3959
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5947
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4826
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9304
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2070
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1451
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5897
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17875
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11835
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1928
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3590
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1388
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3823
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD

12-120947967-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120947967
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120947967
    reference: chr 12
allele count: 3
allele frequency: 2.519357060078268e-5
allele num: 119078
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl transcript: ENST00000546838
  gene symbol: COQ5
  hgvsc: ENST00000546838.1:n.119-41A>C
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000401798
  ensembl transcript: ENST00000445328
  gene symbol: COQ5
  hgvsc: ENST00000445328.2:c.353-41A>C
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000288532
  ensembl transcript: ENST00000288532
  gene symbol: COQ5
  hgvsc: ENST00000288532.6:c.575-41A>C
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449874
  ensembl transcript: ENST00000547943
  gene symbol: COQ5
  hgvsc: ENST00000547943.1:c.425-41A>C
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000450001
  ensembl transcript: ENST00000551769
  gene symbol: COQ5
  hgvsc: ENST00000551769.1:c.332-41A>C
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449863
  ensembl transcript: ENST00000552443
  gene symbol: COQ5
  hgvsc: ENST00000552443.1:c.332-41A>C
  variant of: http://identifiers.org/hgnc/28722
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3959
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3269
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5977
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13044
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5922
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10646
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8089
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4221
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3706
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1755
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4516
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15182
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4796
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1743
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1995
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

12-120947968-G-GT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120947968
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120947969
    reference: chr 12
allele count: 1
allele frequency: 8.410428931875526e-6
allele num: 118900
alternate allele: GT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449863
  ensembl transcript: ENST00000552443
  gene symbol: COQ5
  hgvsc: ENST00000552443.1:c.332-43dupA
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000401798
  ensembl transcript: ENST00000445328
  gene symbol: COQ5
  hgvsc: ENST00000445328.2:c.353-43dupA
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000288532
  ensembl transcript: ENST00000288532
  gene symbol: COQ5
  hgvsc: ENST00000288532.6:c.575-43dupA
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000450001
  ensembl transcript: ENST00000551769
  gene symbol: COQ5
  hgvsc: ENST00000551769.1:c.332-43dupA
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl transcript: ENST00000546838
  gene symbol: COQ5
  hgvsc: ENST00000546838.1:n.119-43dupA
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449874
  ensembl transcript: ENST00000547943
  gene symbol: COQ5
  hgvsc: ENST00000547943.1:c.425-43dupA
  variant of: http://identifiers.org/hgnc/28722
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6048
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1725
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10642
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7978
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5930
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3959
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13093
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3253
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 979
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2199
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2440
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1733
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2031
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1725
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4212
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2408
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15471
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD

12-120947968-GT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120947968
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120947967
    reference: chr 12
allele count: 1
allele frequency: 8.410428931875526e-6
allele num: 118900
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000450001
  ensembl transcript: ENST00000551769
  gene symbol: COQ5
  hgvsc: ENST00000551769.1:c.332-43delA
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449863
  ensembl transcript: ENST00000552443
  gene symbol: COQ5
  hgvsc: ENST00000552443.1:c.332-43delA
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449874
  ensembl transcript: ENST00000547943
  gene symbol: COQ5
  hgvsc: ENST00000547943.1:c.425-43delA
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000401798
  ensembl transcript: ENST00000445328
  gene symbol: COQ5
  hgvsc: ENST00000445328.2:c.353-43delA
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl transcript: ENST00000546838
  gene symbol: COQ5
  hgvsc: ENST00000546838.1:n.119-43delA
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000288532
  ensembl transcript: ENST00000288532
  gene symbol: COQ5
  hgvsc: ENST00000288532.6:c.575-43delA
  variant of: http://identifiers.org/hgnc/28722
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3959
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3253
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6048
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1725
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13093
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7978
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10642
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5930
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3716
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4212
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2031
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2408
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4511
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 979
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1066
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2440
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1725
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
reference allele: GT
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum

12-120947970-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120947970
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120947970
    reference: chr 12
allele count: 1
allele frequency: 8.419209267865562e-6
allele num: 118776
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449863
  ensembl transcript: ENST00000552443
  gene symbol: COQ5
  hgvsc: ENST00000552443.1:c.332-44A>C
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl transcript: ENST00000546838
  gene symbol: COQ5
  hgvsc: ENST00000546838.1:n.119-44A>C
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000401798
  ensembl transcript: ENST00000445328
  gene symbol: COQ5
  hgvsc: ENST00000445328.2:c.353-44A>C
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000450001
  ensembl transcript: ENST00000551769
  gene symbol: COQ5
  hgvsc: ENST00000551769.1:c.332-44A>C
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000288532
  ensembl transcript: ENST00000288532
  gene symbol: COQ5
  hgvsc: ENST00000288532.6:c.575-44A>C
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449874
  ensembl transcript: ENST00000547943
  gene symbol: COQ5
  hgvsc: ENST00000547943.1:c.425-44A>C
  variant of: http://identifiers.org/hgnc/28722
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7262
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5911
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12338
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3188
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10668
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7521
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3959
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4775
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4307
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2241
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4631
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2256
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1118
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14258
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1066
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1726
  bin: 8.25e1
  variant carriers: 0
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: T
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD

12-120947978-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120947978
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120947978
    reference: chr 12
allele count: 5
allele frequency: 4.275989463961961e-5
allele num: 116932
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000401798
  ensembl transcript: ENST00000445328
  gene symbol: COQ5
  hgvsc: ENST00000445328.2:c.353-52G>A
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000288532
  ensembl transcript: ENST00000288532
  gene symbol: COQ5
  hgvsc: ENST00000288532.6:c.575-52G>A
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000450001
  ensembl transcript: ENST00000551769
  gene symbol: COQ5
  hgvsc: ENST00000551769.1:c.332-52G>A
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449863
  ensembl transcript: ENST00000552443
  gene symbol: COQ5
  hgvsc: ENST00000552443.1:c.332-52G>A
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449874
  ensembl transcript: ENST00000547943
  gene symbol: COQ5
  hgvsc: ENST00000547943.1:c.425-52G>A
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl transcript: ENST00000546838
  gene symbol: COQ5
  hgvsc: ENST00000546838.1:n.119-52G>A
  variant of: http://identifiers.org/hgnc/28722
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11889
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10570
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3959
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5848
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2996
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5669
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9620
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 992
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4448
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5299
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11824
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 5263
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2958
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3690
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1591
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2908
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5880
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2256
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

12-120954325-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120954325
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120954325
    reference: chr 12
allele count: 1
allele frequency: 8.242392271933006e-6
allele num: 121324
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl transcript: ENST00000546838
  gene symbol: COQ5
  hgvsc: ENST00000546838.1:n.118+45T>C
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000401798
  ensembl transcript: ENST00000445328
  gene symbol: COQ5
  hgvsc: ENST00000445328.2:c.352+5692T>C
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449863
  ensembl transcript: ENST00000552443
  gene symbol: COQ5
  hgvsc: ENST00000552443.1:c.331+45T>C
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000450001
  ensembl transcript: ENST00000551769
  gene symbol: COQ5
  hgvsc: ENST00000551769.1:c.331+45T>C
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449874
  ensembl transcript: ENST00000547943
  gene symbol: COQ5
  hgvsc: ENST00000547943.1:c.424+45T>C
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000288532
  ensembl transcript: ENST00000288532
  gene symbol: COQ5
  hgvsc: ENST00000288532.6:c.574+45T>C
  variant of: http://identifiers.org/hgnc/28722
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5187
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4654
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2106
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4488
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5340
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5671
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3660
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14677
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2886
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3857
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44028
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2234
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2756
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1171
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: A
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum

12-120954332-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120954332
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120954332
    reference: chr 12
allele count: 3
allele frequency: 2.472676920033628e-5
allele num: 121326
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000401798
  ensembl transcript: ENST00000445328
  gene symbol: COQ5
  hgvsc: ENST00000445328.2:c.352+5685G>C
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449863
  ensembl transcript: ENST00000552443
  gene symbol: COQ5
  hgvsc: ENST00000552443.1:c.331+38G>C
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl transcript: ENST00000546838
  gene symbol: COQ5
  hgvsc: ENST00000546838.1:n.118+38G>C
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000450001
  ensembl transcript: ENST00000551769
  gene symbol: COQ5
  hgvsc: ENST00000551769.1:c.331+38G>C
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000288532
  ensembl transcript: ENST00000288532
  gene symbol: COQ5
  hgvsc: ENST00000288532.6:c.574+38G>C
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449874
  ensembl transcript: ENST00000547943
  gene symbol: COQ5
  hgvsc: ENST00000547943.1:c.424+38G>C
  variant of: http://identifiers.org/hgnc/28722
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2138
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4488
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14677
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3857
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3664
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5670
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5187
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2886
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5341
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4654
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2475
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3993
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2497
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44027
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2755
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

12-120954343-CCT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120954343
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120954341
    reference: chr 12
allele count: 39
allele frequency: 3.213261707807402e-4
allele num: 121372
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000450001
  ensembl transcript: ENST00000551769
  gene symbol: COQ5
  hgvsc: ENST00000551769.1:c.331+25_331+26delAG
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000288532
  ensembl transcript: ENST00000288532
  gene symbol: COQ5
  hgvsc: ENST00000288532.6:c.574+25_574+26delAG
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449863
  ensembl transcript: ENST00000552443
  gene symbol: COQ5
  hgvsc: ENST00000552443.1:c.331+25_331+26delAG
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl transcript: ENST00000546838
  gene symbol: COQ5
  hgvsc: ENST00000546838.1:n.118+25_118+26delAG
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000401798
  ensembl transcript: ENST00000445328
  gene symbol: COQ5
  hgvsc: ENST00000445328.2:c.352+5672_352+5673delAG
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449874
  ensembl transcript: ENST00000547943
  gene symbol: COQ5
  hgvsc: ENST00000547943.1:c.424+25_424+26delAG
  variant of: http://identifiers.org/hgnc/28722
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5669
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4488
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4653
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3857
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14680
  bin: 9.75e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 3668
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5341
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5188
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2160
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2885
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2501
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4109
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
reference allele: CCT
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD

12-120954346-G-GT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120954346
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120954347
    reference: chr 12
allele count: 3
allele frequency: 2.473043822336532e-5
allele num: 121308
alternate allele: GT
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000288532
  ensembl transcript: ENST00000288532
  gene symbol: COQ5
  hgvsc: ENST00000288532.6:c.574+23dupA
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000450001
  ensembl transcript: ENST00000551769
  gene symbol: COQ5
  hgvsc: ENST00000551769.1:c.331+23dupA
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449863
  ensembl transcript: ENST00000552443
  gene symbol: COQ5
  hgvsc: ENST00000552443.1:c.331+23dupA
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl transcript: ENST00000546838
  gene symbol: COQ5
  hgvsc: ENST00000546838.1:n.118+23dupA
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000401798
  ensembl transcript: ENST00000445328
  gene symbol: COQ5
  hgvsc: ENST00000445328.2:c.352+5670dupA
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449874
  ensembl transcript: ENST00000547943
  gene symbol: COQ5
  hgvsc: ENST00000547943.1:c.424+23dupA
  variant of: http://identifiers.org/hgnc/28722
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4489
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5669
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2161
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3667
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2885
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5341
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4653
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14679
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5189
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3857
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4141
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2485
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1358
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-120954367-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120954367
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120954367
    reference: chr 12
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl transcript: ENST00000546838
  gene symbol: COQ5
  hgvsc: ENST00000546838.1:n.118+3G>A
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000401798
  ensembl transcript: ENST00000445328
  gene symbol: COQ5
  hgvsc: ENST00000445328.2:c.352+5650G>A
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449863
  ensembl transcript: ENST00000552443
  gene symbol: COQ5
  hgvsc: ENST00000552443.1:c.331+3G>A
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000450001
  ensembl transcript: ENST00000551769
  gene symbol: COQ5
  hgvsc: ENST00000551769.1:c.331+3G>A
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449874
  ensembl transcript: ENST00000547943
  gene symbol: COQ5
  hgvsc: ENST00000547943.1:c.424+3G>A
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000288532
  ensembl transcript: ENST00000288532
  gene symbol: COQ5
  hgvsc: ENST00000288532.6:c.574+3G>A
  variant of: http://identifiers.org/hgnc/28722
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5344
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5191
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5669
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2886
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4493
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4656
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2173
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3671
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3859
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14669
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4158
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2488
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44027
  bin: 9.75e1
  variant carriers: 1
hgvs: c.574+3G>A
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

12-120954377-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120954377
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120954377
    reference: chr 12
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449863
  ensembl transcript: ENST00000552443
  gene symbol: COQ5
  hgvsc: ENST00000552443.1:c.324C>T
  hgvsp: ENST00000552443.1:c.324C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000401798
  ensembl transcript: ENST00000445328
  gene symbol: COQ5
  hgvsc: ENST00000445328.2:c.352+5640C>T
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000288532
  ensembl transcript: ENST00000288532
  gene symbol: COQ5
  hgvsc: ENST00000288532.6:c.567C>T
  hgvsp: ENST00000288532.6:c.567C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000450001
  ensembl transcript: ENST00000551769
  gene symbol: COQ5
  hgvsc: ENST00000551769.1:c.324C>T
  hgvsp: ENST00000551769.1:c.324C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110871
  ensembl transcript: ENST00000546838
  gene symbol: COQ5
  hgvsc: ENST00000546838.1:n.111C>T
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449874
  ensembl transcript: ENST00000547943
  gene symbol: COQ5
  hgvsc: ENST00000547943.1:c.417C>T
  hgvsp: ENST00000547943.1:c.417C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28722
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3859
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2886
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2179
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5191
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4656
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3672
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14669
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5669
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4492
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5344
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2238
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Tyr189Tyr
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Other
population: Latino
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: DP

12-120954378-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120954378
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120954378
    reference: chr 12
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110871
  ensembl transcript: ENST00000546838
  gene symbol: COQ5
  hgvsc: ENST00000546838.1:n.110A>G
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000450001
  ensembl transcript: ENST00000551769
  gene symbol: COQ5
  hgvsc: ENST00000551769.1:c.323A>G
  hgvsp: ENSP00000450001.1:p.Tyr108Cys
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000288532
  ensembl transcript: ENST00000288532
  gene symbol: COQ5
  hgvsc: ENST00000288532.6:c.566A>G
  hgvsp: ENSP00000288532.6:p.Tyr189Cys
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449863
  ensembl transcript: ENST00000552443
  gene symbol: COQ5
  hgvsc: ENST00000552443.1:c.323A>G
  hgvsp: ENSP00000449863.1:p.Tyr108Cys
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000401798
  ensembl transcript: ENST00000445328
  gene symbol: COQ5
  hgvsc: ENST00000445328.2:c.352+5639A>G
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449874
  ensembl transcript: ENST00000547943
  gene symbol: COQ5
  hgvsc: ENST00000547943.1:c.416A>G
  hgvsp: ENSP00000449874.1:p.Tyr139Cys
  variant of: http://identifiers.org/hgnc/28722
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2181
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3672
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2886
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4656
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4492
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5191
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5669
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3859
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5344
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14669
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2503
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1171
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1358
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4160
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Tyr189Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/12-120954390-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120954390
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120954390
    reference: chr 12
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000450001
  ensembl transcript: ENST00000551769
  gene symbol: COQ5
  hgvsc: ENST00000551769.1:c.311T>G
  hgvsp: ENSP00000450001.1:p.Leu104Trp
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000401798
  ensembl transcript: ENST00000445328
  gene symbol: COQ5
  hgvsc: ENST00000445328.2:c.352+5627T>G
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449874
  ensembl transcript: ENST00000547943
  gene symbol: COQ5
  hgvsc: ENST00000547943.1:c.404T>G
  hgvsp: ENSP00000449874.1:p.Leu135Trp
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449863
  ensembl transcript: ENST00000552443
  gene symbol: COQ5
  hgvsc: ENST00000552443.1:c.311T>G
  hgvsp: ENSP00000449863.1:p.Leu104Trp
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110871
  ensembl transcript: ENST00000546838
  gene symbol: COQ5
  hgvsc: ENST00000546838.1:n.98T>G
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000288532
  ensembl transcript: ENST00000288532
  gene symbol: COQ5
  hgvsc: ENST00000288532.6:c.554T>G
  hgvsp: ENSP00000288532.6:p.Leu185Trp
  variant of: http://identifiers.org/hgnc/28722
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2886
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5191
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2182
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5669
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3859
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4492
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4656
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3674
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5344
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14669
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2503
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2238
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2757
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1171
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1358
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu185Trp
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/12-120954394-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120954394
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120954394
    reference: chr 12
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000401798
  ensembl transcript: ENST00000445328
  gene symbol: COQ5
  hgvsc: ENST00000445328.2:c.352+5623G>T
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000450001
  ensembl transcript: ENST00000551769
  gene symbol: COQ5
  hgvsc: ENST00000551769.1:c.307G>T
  hgvsp: ENSP00000450001.1:p.Ala103Ser
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449863
  ensembl transcript: ENST00000552443
  gene symbol: COQ5
  hgvsc: ENST00000552443.1:c.307G>T
  hgvsp: ENSP00000449863.1:p.Ala103Ser
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110871
  ensembl transcript: ENST00000546838
  gene symbol: COQ5
  hgvsc: ENST00000546838.1:n.94G>T
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449874
  ensembl transcript: ENST00000547943
  gene symbol: COQ5
  hgvsc: ENST00000547943.1:c.400G>T
  hgvsp: ENSP00000449874.1:p.Ala134Ser
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000288532
  ensembl transcript: ENST00000288532
  gene symbol: COQ5
  hgvsc: ENST00000288532.6:c.550G>T
  hgvsp: ENSP00000288532.6:p.Ala184Ser
  variant of: http://identifiers.org/hgnc/28722
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3859
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2887
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2184
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4656
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5669
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5344
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3672
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5191
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4492
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14669
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2489
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2238
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2502
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1171
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2757
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala184Ser
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff

12-120954424-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120954424
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120954424
    reference: chr 12
allele count: 6
allele frequency: 4.941850887885876e-5
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449863
  ensembl transcript: ENST00000552443
  gene symbol: COQ5
  hgvsc: ENST00000552443.1:c.277A>C
  hgvsp: ENSP00000449863.1:p.Lys93Gln
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449874
  ensembl transcript: ENST00000547943
  gene symbol: COQ5
  hgvsc: ENST00000547943.1:c.370A>C
  hgvsp: ENSP00000449874.1:p.Lys124Gln
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000401798
  ensembl transcript: ENST00000445328
  gene symbol: COQ5
  hgvsc: ENST00000445328.2:c.352+5593A>C
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000450001
  ensembl transcript: ENST00000551769
  gene symbol: COQ5
  hgvsc: ENST00000551769.1:c.277A>C
  hgvsp: ENSP00000450001.1:p.Lys93Gln
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110871
  ensembl transcript: ENST00000546838
  gene symbol: COQ5
  hgvsc: ENST00000546838.1:n.64A>C
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000288532
  ensembl transcript: ENST00000288532
  gene symbol: COQ5
  hgvsc: ENST00000288532.6:c.520A>C
  hgvsp: ENSP00000288532.6:p.Lys174Gln
  variant of: http://identifiers.org/hgnc/28722
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4492
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5669
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2186
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14669
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3671
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4656
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2887
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5191
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3859
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5344
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4162
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Lys174Gln
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: T
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD

http://identifiers.org/exac.variant/12-120954436-ACAC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120954436
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120954433
    reference: chr 12
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110871
  ensembl transcript: ENST00000546838
  gene symbol: COQ5
  hgvsc: ENST00000546838.1:n.49_51delGTG
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000401798
  ensembl transcript: ENST00000445328
  gene symbol: COQ5
  hgvsc: ENST00000445328.2:c.352+5578_352+5580delGTG
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449874
  ensembl transcript: ENST00000547943
  gene symbol: COQ5
  hgvsc: ENST00000547943.1:c.355_357delGTG
  hgvsp: ENSP00000449874.1:p.Val119del
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000288532
  ensembl transcript: ENST00000288532
  gene symbol: COQ5
  hgvsc: ENST00000288532.6:c.505_507delGTG
  hgvsp: ENSP00000288532.6:p.Val169del
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000450001
  ensembl transcript: ENST00000551769
  gene symbol: COQ5
  hgvsc: ENST00000551769.1:c.262_264delGTG
  hgvsp: ENSP00000450001.1:p.Val88del
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449863
  ensembl transcript: ENST00000552443
  gene symbol: COQ5
  hgvsc: ENST00000552443.1:c.262_264delGTG
  hgvsp: ENSP00000449863.1:p.Val88del
  variant of: http://identifiers.org/hgnc/28722
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5345
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2887
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3859
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5670
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3673
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2185
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4657
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4493
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5191
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14664
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2758
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2239
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2488
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val169del
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: ACAC
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

12-120954437-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120954437
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120954437
    reference: chr 12
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449874
  ensembl transcript: ENST00000547943
  gene symbol: COQ5
  hgvsc: ENST00000547943.1:c.357G>C
  hgvsp: ENST00000547943.1:c.357G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000401798
  ensembl transcript: ENST00000445328
  gene symbol: COQ5
  hgvsc: ENST00000445328.2:c.352+5580G>C
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000450001
  ensembl transcript: ENST00000551769
  gene symbol: COQ5
  hgvsc: ENST00000551769.1:c.264G>C
  hgvsp: ENST00000551769.1:c.264G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449863
  ensembl transcript: ENST00000552443
  gene symbol: COQ5
  hgvsc: ENST00000552443.1:c.264G>C
  hgvsp: ENST00000552443.1:c.264G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110871
  ensembl transcript: ENST00000546838
  gene symbol: COQ5
  hgvsc: ENST00000546838.1:n.51G>C
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000288532
  ensembl transcript: ENST00000288532
  gene symbol: COQ5
  hgvsc: ENST00000288532.6:c.507G>C
  hgvsp: ENST00000288532.6:c.507G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28722
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2887
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3673
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4493
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2185
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5670
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14663
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3859
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4657
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5191
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5345
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1171
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1358
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2503
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val169Val
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff

12-120954438-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120954438
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120954438
    reference: chr 12
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000288532
  ensembl transcript: ENST00000288532
  gene symbol: COQ5
  hgvsc: ENST00000288532.6:c.506T>C
  hgvsp: ENSP00000288532.6:p.Val169Ala
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449863
  ensembl transcript: ENST00000552443
  gene symbol: COQ5
  hgvsc: ENST00000552443.1:c.263T>C
  hgvsp: ENSP00000449863.1:p.Val88Ala
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000450001
  ensembl transcript: ENST00000551769
  gene symbol: COQ5
  hgvsc: ENST00000551769.1:c.263T>C
  hgvsp: ENSP00000450001.1:p.Val88Ala
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110871
  ensembl transcript: ENST00000546838
  gene symbol: COQ5
  hgvsc: ENST00000546838.1:n.50T>C
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449874
  ensembl transcript: ENST00000547943
  gene symbol: COQ5
  hgvsc: ENST00000547943.1:c.356T>C
  hgvsp: ENSP00000449874.1:p.Val119Ala
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000401798
  ensembl transcript: ENST00000445328
  gene symbol: COQ5
  hgvsc: ENST00000445328.2:c.352+5579T>C
  variant of: http://identifiers.org/hgnc/28722
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3859
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5191
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4494
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5345
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4657
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2185
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14664
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2887
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5670
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3672
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2239
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2758
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1358
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2503
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Val169Ala
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-120954442-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120954442
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120954442
    reference: chr 12
allele count: 2
allele frequency: 1.647283629295292e-5
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110871
  ensembl transcript: ENST00000546838
  gene symbol: COQ5
  hgvsc: ENST00000546838.1:n.46G>A
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000288532
  ensembl transcript: ENST00000288532
  gene symbol: COQ5
  hgvsc: ENST00000288532.6:c.502G>A
  hgvsp: ENSP00000288532.6:p.Val168Met
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000401798
  ensembl transcript: ENST00000445328
  gene symbol: COQ5
  hgvsc: ENST00000445328.2:c.352+5575G>A
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449863
  ensembl transcript: ENST00000552443
  gene symbol: COQ5
  hgvsc: ENST00000552443.1:c.259G>A
  hgvsp: ENSP00000449863.1:p.Val87Met
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000450001
  ensembl transcript: ENST00000551769
  gene symbol: COQ5
  hgvsc: ENST00000551769.1:c.259G>A
  hgvsp: ENSP00000450001.1:p.Val87Met
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449874
  ensembl transcript: ENST00000547943
  gene symbol: COQ5
  hgvsc: ENST00000547943.1:c.352G>A
  hgvsp: ENSP00000449874.1:p.Val118Met
  variant of: http://identifiers.org/hgnc/28722
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4657
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2183
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4493
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3859
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5670
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5191
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2887
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3676
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14663
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5345
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1173
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2503
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Val168Met
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: BaseQRankSum

12-120954443-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120954443
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120954443
    reference: chr 12
allele count: 4
allele frequency: 3.294567258590584e-5
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000450001
  ensembl transcript: ENST00000551769
  gene symbol: COQ5
  hgvsc: ENST00000551769.1:c.258C>T
  hgvsp: ENST00000551769.1:c.258C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110871
  ensembl transcript: ENST00000546838
  gene symbol: COQ5
  hgvsc: ENST00000546838.1:n.45C>T
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449863
  ensembl transcript: ENST00000552443
  gene symbol: COQ5
  hgvsc: ENST00000552443.1:c.258C>T
  hgvsp: ENST00000552443.1:c.258C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000401798
  ensembl transcript: ENST00000445328
  gene symbol: COQ5
  hgvsc: ENST00000445328.2:c.352+5574C>T
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449874
  ensembl transcript: ENST00000547943
  gene symbol: COQ5
  hgvsc: ENST00000547943.1:c.351C>T
  hgvsp: ENST00000547943.1:c.351C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000288532
  ensembl transcript: ENST00000288532
  gene symbol: COQ5
  hgvsc: ENST00000288532.6:c.501C>T
  hgvsp: ENST00000288532.6:c.501C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28722
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3859
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5670
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2887
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2183
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5191
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5345
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4657
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14663
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3676
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4493
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2758
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2239
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44024
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4162
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2488
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val167Val
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum

12-120954447-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120954447
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120954447
    reference: chr 12
allele count: 7
allele frequency: 5.765492702533522e-5
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000288532
  ensembl transcript: ENST00000288532
  gene symbol: COQ5
  hgvsc: ENST00000288532.6:c.497G>A
  hgvsp: ENSP00000288532.6:p.Arg166His
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449874
  ensembl transcript: ENST00000547943
  gene symbol: COQ5
  hgvsc: ENST00000547943.1:c.347G>A
  hgvsp: ENSP00000449874.1:p.Arg116His
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000450001
  ensembl transcript: ENST00000551769
  gene symbol: COQ5
  hgvsc: ENST00000551769.1:c.254G>A
  hgvsp: ENSP00000450001.1:p.Arg85His
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110871
  ensembl transcript: ENST00000546838
  gene symbol: COQ5
  hgvsc: ENST00000546838.1:n.41G>A
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449863
  ensembl transcript: ENST00000552443
  gene symbol: COQ5
  hgvsc: ENST00000552443.1:c.254G>A
  hgvsp: ENSP00000449863.1:p.Arg85His
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000401798
  ensembl transcript: ENST00000445328
  gene symbol: COQ5
  hgvsc: ENST00000445328.2:c.352+5570G>A
  variant of: http://identifiers.org/hgnc/28722
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4657
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4493
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2887
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5345
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3674
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5191
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2184
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5671
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3859
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14664
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4163
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1358
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2758
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg166His
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum

12-120954448-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120954448
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120954448
    reference: chr 12
allele count: 7
allele frequency: 5.765492702533522e-5
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449863
  ensembl transcript: ENST00000552443
  gene symbol: COQ5
  hgvsc: ENST00000552443.1:c.253C>T
  hgvsp: ENSP00000449863.1:p.Arg85Cys
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000288532
  ensembl transcript: ENST00000288532
  gene symbol: COQ5
  hgvsc: ENST00000288532.6:c.496C>T
  hgvsp: ENSP00000288532.6:p.Arg166Cys
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449874
  ensembl transcript: ENST00000547943
  gene symbol: COQ5
  hgvsc: ENST00000547943.1:c.346C>T
  hgvsp: ENSP00000449874.1:p.Arg116Cys
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110871
  ensembl transcript: ENST00000546838
  gene symbol: COQ5
  hgvsc: ENST00000546838.1:n.40C>T
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000401798
  ensembl transcript: ENST00000445328
  gene symbol: COQ5
  hgvsc: ENST00000445328.2:c.352+5569C>T
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000450001
  ensembl transcript: ENST00000551769
  gene symbol: COQ5
  hgvsc: ENST00000551769.1:c.253C>T
  hgvsp: ENSP00000450001.1:p.Arg85Cys
  variant of: http://identifiers.org/hgnc/28722
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5347
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2888
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5671
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14663
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5191
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4493
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4656
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3673
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3859
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2184
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44025
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 2758
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2239
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1357
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg166Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

12-120954454-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120954454
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120954454
    reference: chr 12
allele count: 22
allele frequency: 1.812011992224821e-4
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000288532
  ensembl transcript: ENST00000288532
  gene symbol: COQ5
  hgvsc: ENST00000288532.6:c.490G>A
  hgvsp: ENSP00000288532.6:p.Gly164Arg
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000450001
  ensembl transcript: ENST00000551769
  gene symbol: COQ5
  hgvsc: ENST00000551769.1:c.247G>A
  hgvsp: ENSP00000450001.1:p.Gly83Arg
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449874
  ensembl transcript: ENST00000547943
  gene symbol: COQ5
  hgvsc: ENST00000547943.1:c.340G>A
  hgvsp: ENSP00000449874.1:p.Gly114Arg
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449863
  ensembl transcript: ENST00000552443
  gene symbol: COQ5
  hgvsc: ENST00000552443.1:c.247G>A
  hgvsp: ENSP00000449863.1:p.Gly83Arg
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000401798
  ensembl transcript: ENST00000445328
  gene symbol: COQ5
  hgvsc: ENST00000445328.2:c.352+5563G>A
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110871
  ensembl transcript: ENST00000546838
  gene symbol: COQ5
  hgvsc: ENST00000546838.1:n.34G>A
  variant of: http://identifiers.org/hgnc/28722
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3674
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4656
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2186
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3859
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4494
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5672
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14666
  bin: 9.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 2887
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5192
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5345
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1357
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1174
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2758
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44020
  bin: 9.75e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2488
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly164Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

12-120954455-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120954455
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120954455
    reference: chr 12
allele count: 8
allele frequency: 6.589134517181169e-5
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449874
  ensembl transcript: ENST00000547943
  gene symbol: COQ5
  hgvsc: ENST00000547943.1:c.339C>T
  hgvsp: ENST00000547943.1:c.339C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000401798
  ensembl transcript: ENST00000445328
  gene symbol: COQ5
  hgvsc: ENST00000445328.2:c.352+5562C>T
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000288532
  ensembl transcript: ENST00000288532
  gene symbol: COQ5
  hgvsc: ENST00000288532.6:c.489C>T
  hgvsp: ENST00000288532.6:c.489C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000450001
  ensembl transcript: ENST00000551769
  gene symbol: COQ5
  hgvsc: ENST00000551769.1:c.246C>T
  hgvsp: ENST00000551769.1:c.246C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110871
  ensembl transcript: ENST00000546838
  gene symbol: COQ5
  hgvsc: ENST00000546838.1:n.33C>T
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449863
  ensembl transcript: ENST00000552443
  gene symbol: COQ5
  hgvsc: ENST00000552443.1:c.246C>T
  hgvsp: ENST00000552443.1:c.246C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28722
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5193
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4496
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5673
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3859
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5346
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14654
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 4660
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2888
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2187
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3673
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4166
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2488
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1175
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2240
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2759
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly163Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

12-120954456-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120954456
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120954456
    reference: chr 12
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449874
  ensembl transcript: ENST00000547943
  gene symbol: COQ5
  hgvsc: ENST00000547943.1:c.338G>A
  hgvsp: ENSP00000449874.1:p.Gly113Asp
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110871
  ensembl transcript: ENST00000546838
  gene symbol: COQ5
  hgvsc: ENST00000546838.1:n.32G>A
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000450001
  ensembl transcript: ENST00000551769
  gene symbol: COQ5
  hgvsc: ENST00000551769.1:c.245G>A
  hgvsp: ENSP00000450001.1:p.Gly82Asp
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000288532
  ensembl transcript: ENST00000288532
  gene symbol: COQ5
  hgvsc: ENST00000288532.6:c.488G>A
  hgvsp: ENSP00000288532.6:p.Gly163Asp
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000401798
  ensembl transcript: ENST00000445328
  gene symbol: COQ5
  hgvsc: ENST00000445328.2:c.352+5561G>A
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449863
  ensembl transcript: ENST00000552443
  gene symbol: COQ5
  hgvsc: ENST00000552443.1:c.245G>A
  hgvsp: ENSP00000449863.1:p.Gly82Asp
  variant of: http://identifiers.org/hgnc/28722
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5194
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3859
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4659
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5673
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2889
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3673
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5347
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2189
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14648
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4496
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2240
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4168
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly163Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: African
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

12-120954459-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120954459
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120954459
    reference: chr 12
allele count: 6
allele frequency: 4.941850887885876e-5
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110871
  ensembl transcript: ENST00000546838
  gene symbol: COQ5
  hgvsc: ENST00000546838.1:n.29T>C
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449874
  ensembl transcript: ENST00000547943
  gene symbol: COQ5
  hgvsc: ENST00000547943.1:c.335T>C
  hgvsp: ENSP00000449874.1:p.Leu112Ser
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000401798
  ensembl transcript: ENST00000445328
  gene symbol: COQ5
  hgvsc: ENST00000445328.2:c.352+5558T>C
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449863
  ensembl transcript: ENST00000552443
  gene symbol: COQ5
  hgvsc: ENST00000552443.1:c.242T>C
  hgvsp: ENSP00000449863.1:p.Leu81Ser
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000288532
  ensembl transcript: ENST00000288532
  gene symbol: COQ5
  hgvsc: ENST00000288532.6:c.485T>C
  hgvsp: ENSP00000288532.6:p.Leu162Ser
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000450001
  ensembl transcript: ENST00000551769
  gene symbol: COQ5
  hgvsc: ENST00000551769.1:c.242T>C
  hgvsp: ENSP00000450001.1:p.Leu81Ser
  variant of: http://identifiers.org/hgnc/28722
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5195
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3859
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14647
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4496
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2189
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3672
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4659
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2890
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5673
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5347
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2759
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44015
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 4168
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2240
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2505
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2488
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1175
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu162Ser
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ

12-120954460-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120954460
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120954460
    reference: chr 12
allele count: 2
allele frequency: 1.647283629295292e-5
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000450001
  ensembl transcript: ENST00000551769
  gene symbol: COQ5
  hgvsc: ENST00000551769.1:c.241T>C
  hgvsp: ENST00000551769.1:c.241T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449863
  ensembl transcript: ENST00000552443
  gene symbol: COQ5
  hgvsc: ENST00000552443.1:c.241T>C
  hgvsp: ENST00000552443.1:c.241T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110871
  ensembl transcript: ENST00000546838
  gene symbol: COQ5
  hgvsc: ENST00000546838.1:n.28T>C
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000401798
  ensembl transcript: ENST00000445328
  gene symbol: COQ5
  hgvsc: ENST00000445328.2:c.352+5557T>C
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000288532
  ensembl transcript: ENST00000288532
  gene symbol: COQ5
  hgvsc: ENST00000288532.6:c.484T>C
  hgvsp: ENST00000288532.6:c.484T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449874
  ensembl transcript: ENST00000547943
  gene symbol: COQ5
  hgvsc: ENST00000547943.1:c.334T>C
  hgvsp: ENST00000547943.1:c.334T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28722
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2891
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5675
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2190
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5195
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3672
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4496
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14643
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5347
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3859
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4659
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1175
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2760
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44012
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2489
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu162Leu
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum

12-120954463-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120954463
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120954463
    reference: chr 12
allele count: 2
allele frequency: 1.647283629295292e-5
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000288532
  ensembl transcript: ENST00000288532
  gene symbol: COQ5
  hgvsc: ENST00000288532.6:c.481T>C
  hgvsp: ENSP00000288532.6:p.Ser161Pro
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449863
  ensembl transcript: ENST00000552443
  gene symbol: COQ5
  hgvsc: ENST00000552443.1:c.238T>C
  hgvsp: ENSP00000449863.1:p.Ser80Pro
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110871
  ensembl transcript: ENST00000546838
  gene symbol: COQ5
  hgvsc: ENST00000546838.1:n.25T>C
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000450001
  ensembl transcript: ENST00000551769
  gene symbol: COQ5
  hgvsc: ENST00000551769.1:c.238T>C
  hgvsp: ENSP00000450001.1:p.Ser80Pro
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449874
  ensembl transcript: ENST00000547943
  gene symbol: COQ5
  hgvsc: ENST00000547943.1:c.331T>C
  hgvsp: ENSP00000449874.1:p.Ser111Pro
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000401798
  ensembl transcript: ENST00000445328
  gene symbol: COQ5
  hgvsc: ENST00000445328.2:c.352+5554T>C
  variant of: http://identifiers.org/hgnc/28722
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4659
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5347
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5195
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3859
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5677
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2891
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14641
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2190
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4496
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3672
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2760
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2489
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44011
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1357
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2505
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4168
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2241
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser161Pro
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

12-120954465-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120954465
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120954465
    reference: chr 12
allele count: 23
allele frequency: 1.894376173689586e-4
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449863
  ensembl transcript: ENST00000552443
  gene symbol: COQ5
  hgvsc: ENST00000552443.1:c.236A>G
  hgvsp: ENSP00000449863.1:p.Asp79Gly
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449874
  ensembl transcript: ENST00000547943
  gene symbol: COQ5
  hgvsc: ENST00000547943.1:c.329A>G
  hgvsp: ENSP00000449874.1:p.Asp110Gly
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000401798
  ensembl transcript: ENST00000445328
  gene symbol: COQ5
  hgvsc: ENST00000445328.2:c.352+5552A>G
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110871
  ensembl transcript: ENST00000546838
  gene symbol: COQ5
  hgvsc: ENST00000546838.1:n.23A>G
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000450001
  ensembl transcript: ENST00000551769
  gene symbol: COQ5
  hgvsc: ENST00000551769.1:c.236A>G
  hgvsp: ENSP00000450001.1:p.Asp79Gly
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000288532
  ensembl transcript: ENST00000288532
  gene symbol: COQ5
  hgvsc: ENST00000288532.6:c.479A>G
  hgvsp: ENSP00000288532.6:p.Asp160Gly
  variant of: http://identifiers.org/hgnc/28722
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3672
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2890
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2190
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5347
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5678
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3859
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4497
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5194
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14641
  bin: 9.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4659
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44010
  bin: 9.75e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 1357
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2241
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2505
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2490
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asp160Gly
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

12-120954469-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120954469
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120954469
    reference: chr 12
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110871
  ensembl transcript: ENST00000546838
  gene symbol: COQ5
  hgvsc: ENST00000546838.1:n.19G>A
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000450001
  ensembl transcript: ENST00000551769
  gene symbol: COQ5
  hgvsc: ENST00000551769.1:c.232G>A
  hgvsp: ENSP00000450001.1:p.Glu78Lys
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000401798
  ensembl transcript: ENST00000445328
  gene symbol: COQ5
  hgvsc: ENST00000445328.2:c.352+5548G>A
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000288532
  ensembl transcript: ENST00000288532
  gene symbol: COQ5
  hgvsc: ENST00000288532.6:c.475G>A
  hgvsp: ENSP00000288532.6:p.Glu159Lys
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449874
  ensembl transcript: ENST00000547943
  gene symbol: COQ5
  hgvsc: ENST00000547943.1:c.325G>A
  hgvsp: ENSP00000449874.1:p.Glu109Lys
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449863
  ensembl transcript: ENST00000552443
  gene symbol: COQ5
  hgvsc: ENST00000552443.1:c.232G>A
  hgvsp: ENSP00000449863.1:p.Glu78Lys
  variant of: http://identifiers.org/hgnc/28722
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3861
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2891
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5197
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4499
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5350
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3674
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14625
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2190
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5679
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4660
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4168
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2506
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2492
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2241
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Glu159Lys
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum

12-120954484-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120954484
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120954484
    reference: chr 12
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000288532
  ensembl transcript: ENST00000288532
  gene symbol: COQ5
  hgvsc: ENST00000288532.6:c.460G>C
  hgvsp: ENSP00000288532.6:p.Glu154Gln
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000401798
  ensembl transcript: ENST00000445328
  gene symbol: COQ5
  hgvsc: ENST00000445328.2:c.352+5533G>C
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110871
  ensembl transcript: ENST00000546838
  gene symbol: COQ5
  hgvsc: ENST00000546838.1:n.4G>C
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000450001
  ensembl transcript: ENST00000551769
  gene symbol: COQ5
  hgvsc: ENST00000551769.1:c.217G>C
  hgvsp: ENSP00000450001.1:p.Glu73Gln
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449863
  ensembl transcript: ENST00000552443
  gene symbol: COQ5
  hgvsc: ENST00000552443.1:c.217G>C
  hgvsp: ENSP00000449863.1:p.Glu73Gln
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449874
  ensembl transcript: ENST00000547943
  gene symbol: COQ5
  hgvsc: ENST00000547943.1:c.310G>C
  hgvsp: ENSP00000449874.1:p.Glu104Gln
  variant of: http://identifiers.org/hgnc/28722
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5197
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1669
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4660
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3675
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4498
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3861
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5679
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2192
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2891
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14626
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5350
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4169
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1357
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2507
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2761
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Glu154Gln
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-120954484-CTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120954484
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120954482
    reference: chr 12
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449863
  ensembl transcript: ENST00000552443
  gene symbol: COQ5
  hgvsc: ENST00000552443.1:c.215_216delAA
  hgvsp: ENSP00000449863.1:p.Lys72ArgfsTer5
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449874
  ensembl transcript: ENST00000547943
  gene symbol: COQ5
  hgvsc: ENST00000547943.1:c.308_309delAA
  hgvsp: ENSP00000449874.1:p.Lys103ArgfsTer5
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110871
  ensembl transcript: ENST00000546838
  gene symbol: COQ5
  hgvsc: ENST00000546838.1:n.2_3delAA
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000401798
  ensembl transcript: ENST00000445328
  gene symbol: COQ5
  hgvsc: ENST00000445328.2:c.352+5531_352+5532delAA
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000450001
  ensembl transcript: ENST00000551769
  gene symbol: COQ5
  hgvsc: ENST00000551769.1:c.215_216delAA
  hgvsp: ENSP00000450001.1:p.Lys72ArgfsTer5
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000288532
  ensembl transcript: ENST00000288532
  gene symbol: COQ5
  hgvsc: ENST00000288532.6:c.458_459delAA
  hgvsp: ENSP00000288532.6:p.Lys153ArgfsTer5
  variant of: http://identifiers.org/hgnc/28722
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2891
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4660
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5679
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1669
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3675
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5197
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2192
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5350
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3861
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4498
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14626
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2507
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1357
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2492
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4169
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Lys153ArgfsTer5
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: CTT
site quality: FS
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-120954487-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120954487
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120954487
    reference: chr 12
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449874
  ensembl transcript: ENST00000547943
  gene symbol: COQ5
  hgvsc: ENST00000547943.1:c.307A>G
  hgvsp: ENSP00000449874.1:p.Lys103Glu
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000288532
  ensembl transcript: ENST00000288532
  gene symbol: COQ5
  hgvsc: ENST00000288532.6:c.457A>G
  hgvsp: ENSP00000288532.6:p.Lys153Glu
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449863
  ensembl transcript: ENST00000552443
  gene symbol: COQ5
  hgvsc: ENST00000552443.1:c.214A>G
  hgvsp: ENSP00000449863.1:p.Lys72Glu
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000450001
  ensembl transcript: ENST00000551769
  gene symbol: COQ5
  hgvsc: ENST00000551769.1:c.214A>G
  hgvsp: ENSP00000450001.1:p.Lys72Glu
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000401798
  ensembl transcript: ENST00000445328
  gene symbol: COQ5
  hgvsc: ENST00000445328.2:c.352+5530A>G
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110871
  ensembl transcript: ENST00000546838
  gene symbol: COQ5
  hgvsc: ENST00000546838.1:n.1A>G
  variant of: http://identifiers.org/hgnc/28722
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3861
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4498
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14625
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5350
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2891
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5679
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5197
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3675
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2192
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4660
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2761
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1357
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2241
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1174
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Lys153Glu
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-120954488-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120954488
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120954488
    reference: chr 12
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000401798
  ensembl transcript: ENST00000445328
  gene symbol: COQ5
  hgvsc: ENST00000445328.2:c.352+5529C>T
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000288532
  ensembl transcript: ENST00000288532
  gene symbol: COQ5
  hgvsc: ENST00000288532.6:c.456C>T
  hgvsp: ENST00000288532.6:c.456C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449863
  ensembl transcript: ENST00000552443
  gene symbol: COQ5
  hgvsc: ENST00000552443.1:c.213C>T
  hgvsp: ENST00000552443.1:c.213C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000450001
  ensembl transcript: ENST00000551769
  gene symbol: COQ5
  hgvsc: ENST00000551769.1:c.213C>T
  hgvsp: ENST00000551769.1:c.213C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449874
  ensembl transcript: ENST00000547943
  gene symbol: COQ5
  hgvsc: ENST00000547943.1:c.306C>T
  hgvsp: ENST00000547943.1:c.306C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28722
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4660
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3675
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4498
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2192
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2891
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5350
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5197
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5679
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14625
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3862
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2507
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4169
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1357
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1174
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala152Ala
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

12-120954490-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120954490
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120954490
    reference: chr 12
allele count: 14379
allele frequency: 1.18431456528185e-1
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000450001
  ensembl transcript: ENST00000551769
  gene symbol: COQ5
  hgvsc: ENST00000551769.1:c.211G>A
  hgvsp: ENSP00000450001.1:p.Ala71Thr
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000288532
  ensembl transcript: ENST00000288532
  gene symbol: COQ5
  hgvsc: ENST00000288532.6:c.454G>A
  hgvsp: ENSP00000288532.6:p.Ala152Thr
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449863
  ensembl transcript: ENST00000552443
  gene symbol: COQ5
  hgvsc: ENST00000552443.1:c.211G>A
  hgvsp: ENSP00000449863.1:p.Ala71Thr
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449874
  ensembl transcript: ENST00000547943
  gene symbol: COQ5
  hgvsc: ENST00000547943.1:c.304G>A
  hgvsp: ENSP00000449874.1:p.Ala102Thr
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000401798
  ensembl transcript: ENST00000445328
  gene symbol: COQ5
  hgvsc: ENST00000445328.2:c.352+5527G>A
  variant of: http://identifiers.org/hgnc/28722
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15930
  bin: 9.75e1
  variant carriers: 12713
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 9.25e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3530
  bin: 3.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 4360
  bin: 3.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2086
  bin: 7.25e1
  variant carriers: 86
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5275
  bin: 5.25e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2815
  bin: 6.75e1
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 8.75e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 2068
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 8.25e1
  variant carriers: 68
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5063
  bin: 4.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 1634
  bin: 7.75e1
  variant carriers: 64
genotype depth: GenotypeDepth
  all individuals: 3799
  bin: 6.25e1
  variant carriers: 68
genotype depth: GenotypeDepth
  all individuals: 5589
  bin: 4.75e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 4587
  bin: 5.75e1
  variant carriers: 52
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2433
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 44459
  bin: 9.75e1
  variant carriers: 13354
genotype quality: GenotypeQuality
  all individuals: 2195
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2696
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1146
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala152Thr
num of homozygotes: 1020
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

12-120954514-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120954514
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120954514
    reference: chr 12
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000450001
  ensembl transcript: ENST00000551769
  gene symbol: COQ5
  hgvsc: ENST00000551769.1:c.187C>T
  hgvsp: ENSP00000450001.1:p.Gln63Ter
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449863
  ensembl transcript: ENST00000552443
  gene symbol: COQ5
  hgvsc: ENST00000552443.1:c.187C>T
  hgvsp: ENSP00000449863.1:p.Gln63Ter
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000401798
  ensembl transcript: ENST00000445328
  gene symbol: COQ5
  hgvsc: ENST00000445328.2:c.352+5503C>T
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000288532
  ensembl transcript: ENST00000288532
  gene symbol: COQ5
  hgvsc: ENST00000288532.6:c.430C>T
  hgvsp: ENSP00000288532.6:p.Gln144Ter
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449874
  ensembl transcript: ENST00000547943
  gene symbol: COQ5
  hgvsc: ENST00000547943.1:c.280C>T
  hgvsp: ENSP00000449874.1:p.Gln94Ter
  variant of: http://identifiers.org/hgnc/28722
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5663
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4463
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6557
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7135
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1878
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4710
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6726
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2807
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5740
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3408
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4645
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3516
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1475
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5372
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2842
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3183
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gln144Ter
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: QD

12-120954516-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120954516
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120954516
    reference: chr 12
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000288532
  ensembl transcript: ENST00000288532
  gene symbol: COQ5
  hgvsc: ENST00000288532.6:c.428A>G
  hgvsp: ENSP00000288532.6:p.Gln143Arg
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000401798
  ensembl transcript: ENST00000445328
  gene symbol: COQ5
  hgvsc: ENST00000445328.2:c.352+5501A>G
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449863
  ensembl transcript: ENST00000552443
  gene symbol: COQ5
  hgvsc: ENST00000552443.1:c.185A>G
  hgvsp: ENSP00000449863.1:p.Gln62Arg
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449874
  ensembl transcript: ENST00000547943
  gene symbol: COQ5
  hgvsc: ENST00000547943.1:c.278A>G
  hgvsp: ENSP00000449874.1:p.Gln93Arg
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000450001
  ensembl transcript: ENST00000551769
  gene symbol: COQ5
  hgvsc: ENST00000551769.1:c.185A>G
  hgvsp: ENSP00000450001.1:p.Gln62Arg
  variant of: http://identifiers.org/hgnc/28722
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7135
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6556
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5664
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4645
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2807
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6726
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1878
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4710
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5740
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4462
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3408
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3517
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1711
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1475
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3251
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5368
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gln143Arg
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff

12-120954520-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120954520
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120954520
    reference: chr 12
allele count: 2
allele frequency: 1.647392178181938e-5
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449863
  ensembl transcript: ENST00000552443
  gene symbol: COQ5
  hgvsc: ENST00000552443.1:c.181G>A
  hgvsp: ENSP00000449863.1:p.Ala61Thr
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000288532
  ensembl transcript: ENST00000288532
  gene symbol: COQ5
  hgvsc: ENST00000288532.6:c.424G>A
  hgvsp: ENSP00000288532.6:p.Ala142Thr
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000450001
  ensembl transcript: ENST00000551769
  gene symbol: COQ5
  hgvsc: ENST00000551769.1:c.181G>A
  hgvsp: ENSP00000450001.1:p.Ala61Thr
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449874
  ensembl transcript: ENST00000547943
  gene symbol: COQ5
  hgvsc: ENST00000547943.1:c.274G>A
  hgvsp: ENSP00000449874.1:p.Ala92Thr
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000401798
  ensembl transcript: ENST00000445328
  gene symbol: COQ5
  hgvsc: ENST00000445328.2:c.352+5497G>A
  variant of: http://identifiers.org/hgnc/28722
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4462
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3408
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2805
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4645
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5663
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7136
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5740
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4712
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6726
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6556
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1878
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5359
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3517
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39346
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1711
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala142Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

12-120954527-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120954527
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120954527
    reference: chr 12
allele count: 13
allele frequency: 1.070822556465297e-4
allele num: 121402
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449874
  ensembl transcript: ENST00000547943
  gene symbol: COQ5
  hgvsc: ENST00000547943.1:c.267G>C
  hgvsp: ENSP00000449874.1:p.Gln89His
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000288532
  ensembl transcript: ENST00000288532
  gene symbol: COQ5
  hgvsc: ENST00000288532.6:c.417G>C
  hgvsp: ENSP00000288532.6:p.Gln139His
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000401798
  ensembl transcript: ENST00000445328
  gene symbol: COQ5
  hgvsc: ENST00000445328.2:c.352+5490G>C
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000450001
  ensembl transcript: ENST00000551769
  gene symbol: COQ5
  hgvsc: ENST00000551769.1:c.174G>C
  hgvsp: ENSP00000450001.1:p.Gln58His
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449863
  ensembl transcript: ENST00000552443
  gene symbol: COQ5
  hgvsc: ENST00000552443.1:c.174G>C
  hgvsp: ENSP00000449863.1:p.Gln58His
  variant of: http://identifiers.org/hgnc/28722
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6556
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5663
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5740
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6726
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2807
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4646
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1878
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7135
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4460
  bin: 9.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 4707
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3408
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2841
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5359
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3183
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3252
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gln139His
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD

12-120954534-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120954534
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120954534
    reference: chr 12
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449863
  ensembl transcript: ENST00000552443
  gene symbol: COQ5
  hgvsc: ENST00000552443.1:c.167A>C
  hgvsp: ENSP00000449863.1:p.Lys56Thr
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000450001
  ensembl transcript: ENST00000551769
  gene symbol: COQ5
  hgvsc: ENST00000551769.1:c.167A>C
  hgvsp: ENSP00000450001.1:p.Lys56Thr
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449874
  ensembl transcript: ENST00000547943
  gene symbol: COQ5
  hgvsc: ENST00000547943.1:c.260A>C
  hgvsp: ENSP00000449874.1:p.Lys87Thr
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000401798
  ensembl transcript: ENST00000445328
  gene symbol: COQ5
  hgvsc: ENST00000445328.2:c.352+5483A>C
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000288532
  ensembl transcript: ENST00000288532
  gene symbol: COQ5
  hgvsc: ENST00000288532.6:c.410A>C
  hgvsp: ENSP00000288532.6:p.Lys137Thr
  variant of: http://identifiers.org/hgnc/28722
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7136
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6728
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4449
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6558
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1878
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2806
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5666
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4703
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3408
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5741
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4646
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2440
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2841
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3183
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3520
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1475
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39339
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1711
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Lys137Thr
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

12-120954540-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120954540
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120954540
    reference: chr 12
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449863
  ensembl transcript: ENST00000552443
  gene symbol: COQ5
  hgvsc: ENST00000552443.1:c.161A>G
  hgvsp: ENSP00000449863.1:p.Lys54Arg
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000450001
  ensembl transcript: ENST00000551769
  gene symbol: COQ5
  hgvsc: ENST00000551769.1:c.161A>G
  hgvsp: ENSP00000450001.1:p.Lys54Arg
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000401798
  ensembl transcript: ENST00000445328
  gene symbol: COQ5
  hgvsc: ENST00000445328.2:c.352+5477A>G
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000288532
  ensembl transcript: ENST00000288532
  gene symbol: COQ5
  hgvsc: ENST00000288532.6:c.404A>G
  hgvsp: ENSP00000288532.6:p.Lys135Arg
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449874
  ensembl transcript: ENST00000547943
  gene symbol: COQ5
  hgvsc: ENST00000547943.1:c.254A>G
  hgvsp: ENSP00000449874.1:p.Lys85Arg
  variant of: http://identifiers.org/hgnc/28722
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4448
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6728
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4646
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4703
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5663
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2804
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2440
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6557
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5741
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7137
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3408
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1878
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3248
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1710
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3182
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3520
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Lys135Arg
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

12-120954544-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120954544
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120954544
    reference: chr 12
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449874
  ensembl transcript: ENST00000547943
  gene symbol: COQ5
  hgvsc: ENST00000547943.1:c.250A>G
  hgvsp: ENSP00000449874.1:p.Arg84Gly
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449863
  ensembl transcript: ENST00000552443
  gene symbol: COQ5
  hgvsc: ENST00000552443.1:c.157A>G
  hgvsp: ENSP00000449863.1:p.Arg53Gly
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000288532
  ensembl transcript: ENST00000288532
  gene symbol: COQ5
  hgvsc: ENST00000288532.6:c.400A>G
  hgvsp: ENSP00000288532.6:p.Arg134Gly
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000450001
  ensembl transcript: ENST00000551769
  gene symbol: COQ5
  hgvsc: ENST00000551769.1:c.157A>G
  hgvsp: ENSP00000450001.1:p.Arg53Gly
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000401798
  ensembl transcript: ENST00000445328
  gene symbol: COQ5
  hgvsc: ENST00000445328.2:c.352+5473A>G
  variant of: http://identifiers.org/hgnc/28722
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4646
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2800
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3408
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5741
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4703
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1878
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5663
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2440
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6729
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7136
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4447
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6557
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1710
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3182
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5350
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3246
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3520
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg134Gly
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: Latino
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

12-120954546-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120954546
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120954546
    reference: chr 12
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449863
  ensembl transcript: ENST00000552443
  gene symbol: COQ5
  hgvsc: ENST00000552443.1:c.155A>G
  hgvsp: ENSP00000449863.1:p.Gln52Arg
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000450001
  ensembl transcript: ENST00000551769
  gene symbol: COQ5
  hgvsc: ENST00000551769.1:c.155A>G
  hgvsp: ENSP00000450001.1:p.Gln52Arg
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000288532
  ensembl transcript: ENST00000288532
  gene symbol: COQ5
  hgvsc: ENST00000288532.6:c.398A>G
  hgvsp: ENSP00000288532.6:p.Gln133Arg
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449874
  ensembl transcript: ENST00000547943
  gene symbol: COQ5
  hgvsc: ENST00000547943.1:c.248A>G
  hgvsp: ENSP00000449874.1:p.Gln83Arg
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000401798
  ensembl transcript: ENST00000445328
  gene symbol: COQ5
  hgvsc: ENST00000445328.2:c.352+5471A>G
  variant of: http://identifiers.org/hgnc/28722
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6729
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4702
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4646
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7136
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1878
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4446
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2440
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2798
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6557
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3408
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5741
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5663
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3182
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2842
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5348
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3520
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3247
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gln133Arg
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: QD

12-120954549-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120954549
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120954549
    reference: chr 12
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449863
  ensembl transcript: ENST00000552443
  gene symbol: COQ5
  hgvsc: ENST00000552443.1:c.152A>T
  hgvsp: ENSP00000449863.1:p.His51Leu
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000401798
  ensembl transcript: ENST00000445328
  gene symbol: COQ5
  hgvsc: ENST00000445328.2:c.352+5468A>T
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000450001
  ensembl transcript: ENST00000551769
  gene symbol: COQ5
  hgvsc: ENST00000551769.1:c.152A>T
  hgvsp: ENSP00000450001.1:p.His51Leu
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449874
  ensembl transcript: ENST00000547943
  gene symbol: COQ5
  hgvsc: ENST00000547943.1:c.245A>T
  hgvsp: ENSP00000449874.1:p.His82Leu
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000288532
  ensembl transcript: ENST00000288532
  gene symbol: COQ5
  hgvsc: ENST00000288532.6:c.395A>T
  hgvsp: ENSP00000288532.6:p.His132Leu
  variant of: http://identifiers.org/hgnc/28722
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2799
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7137
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5663
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6729
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2439
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4701
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5741
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4445
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6557
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3408
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1877
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4646
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5342
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3182
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1710
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
hgvs: p.His132Leu
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: T
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ

12-120954549-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120954549
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120954549
    reference: chr 12
allele count: 57
allele frequency: 4.695609193508526e-4
allele num: 121390
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449874
  ensembl transcript: ENST00000547943
  gene symbol: COQ5
  hgvsc: ENST00000547943.1:c.245A>G
  hgvsp: ENSP00000449874.1:p.His82Arg
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449863
  ensembl transcript: ENST00000552443
  gene symbol: COQ5
  hgvsc: ENST00000552443.1:c.152A>G
  hgvsp: ENSP00000449863.1:p.His51Arg
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000450001
  ensembl transcript: ENST00000551769
  gene symbol: COQ5
  hgvsc: ENST00000551769.1:c.152A>G
  hgvsp: ENSP00000450001.1:p.His51Arg
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000288532
  ensembl transcript: ENST00000288532
  gene symbol: COQ5
  hgvsc: ENST00000288532.6:c.395A>G
  hgvsp: ENSP00000288532.6:p.His132Arg
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000401798
  ensembl transcript: ENST00000445328
  gene symbol: COQ5
  hgvsc: ENST00000445328.2:c.352+5468A>G
  variant of: http://identifiers.org/hgnc/28722
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4445
  bin: 9.75e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 5663
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4701
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6729
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2799
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6557
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1877
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4646
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7137
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3408
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2439
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5741
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1475
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3521
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3247
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3182
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1710
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2841
  bin: 7.75e1
  variant carriers: 0
hgvs: p.His132Arg
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-120954554-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120954554
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120954554
    reference: chr 12
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449863
  ensembl transcript: ENST00000552443
  gene symbol: COQ5
  hgvsc: ENST00000552443.1:c.147C>G
  hgvsp: ENST00000552443.1:c.147C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000288532
  ensembl transcript: ENST00000288532
  gene symbol: COQ5
  hgvsc: ENST00000288532.6:c.390C>G
  hgvsp: ENST00000288532.6:c.390C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000450001
  ensembl transcript: ENST00000551769
  gene symbol: COQ5
  hgvsc: ENST00000551769.1:c.147C>G
  hgvsp: ENST00000551769.1:c.147C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449874
  ensembl transcript: ENST00000547943
  gene symbol: COQ5
  hgvsc: ENST00000547943.1:c.240C>G
  hgvsp: ENST00000547943.1:c.240C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000401798
  ensembl transcript: ENST00000445328
  gene symbol: COQ5
  hgvsc: ENST00000445328.2:c.352+5463C>G
  variant of: http://identifiers.org/hgnc/28722
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5748
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2441
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2797
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4405
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6563
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5667
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4650
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7144
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4704
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3409
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1878
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6733
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3242
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1475
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5344
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1709
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser130Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS

12-120954566-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120954566
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120954566
    reference: chr 12
allele count: 2
allele frequency: 1.647935137272997e-5
allele num: 121364
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000288532
  ensembl transcript: ENST00000288532
  gene symbol: COQ5
  hgvsc: ENST00000288532.6:c.378T>C
  hgvsp: ENST00000288532.6:c.378T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000450001
  ensembl transcript: ENST00000551769
  gene symbol: COQ5
  hgvsc: ENST00000551769.1:c.135T>C
  hgvsp: ENST00000551769.1:c.135T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449863
  ensembl transcript: ENST00000552443
  gene symbol: COQ5
  hgvsc: ENST00000552443.1:c.135T>C
  hgvsp: ENST00000552443.1:c.135T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000401798
  ensembl transcript: ENST00000445328
  gene symbol: COQ5
  hgvsc: ENST00000445328.2:c.352+5451T>C
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449874
  ensembl transcript: ENST00000547943
  gene symbol: COQ5
  hgvsc: ENST00000547943.1:c.228T>C
  hgvsp: ENST00000547943.1:c.228T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28722
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2783
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2441
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6734
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5661
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1878
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3409
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4695
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7143
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4650
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5748
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6563
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4404
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3524
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3234
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1474
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3181
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2842
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asn126Asn
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: A
site quality: DP
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-120954568-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120954568
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120954568
    reference: chr 12
allele count: 1
allele frequency: 8.239947264337508e-6
allele num: 121360
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449874
  ensembl transcript: ENST00000547943
  gene symbol: COQ5
  hgvsc: ENST00000547943.1:c.226A>G
  hgvsp: ENSP00000449874.1:p.Asn76Asp
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449863
  ensembl transcript: ENST00000552443
  gene symbol: COQ5
  hgvsc: ENST00000552443.1:c.133A>G
  hgvsp: ENSP00000449863.1:p.Asn45Asp
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000288532
  ensembl transcript: ENST00000288532
  gene symbol: COQ5
  hgvsc: ENST00000288532.6:c.376A>G
  hgvsp: ENSP00000288532.6:p.Asn126Asp
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000450001
  ensembl transcript: ENST00000551769
  gene symbol: COQ5
  hgvsc: ENST00000551769.1:c.133A>G
  hgvsp: ENSP00000450001.1:p.Asn45Asp
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000401798
  ensembl transcript: ENST00000445328
  gene symbol: COQ5
  hgvsc: ENST00000445328.2:c.352+5449A>G
  variant of: http://identifiers.org/hgnc/28722
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6564
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4650
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6734
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4402
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2441
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2780
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5661
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1878
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7143
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3409
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4689
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5748
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3179
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2841
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1476
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3235
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1709
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asn126Asp
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/12-120954570-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120954570
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120954570
    reference: chr 12
allele count: 1
allele frequency: 8.239947264337508e-6
allele num: 121360
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000401798
  ensembl transcript: ENST00000445328
  gene symbol: COQ5
  hgvsc: ENST00000445328.2:c.352+5447T>G
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000288532
  ensembl transcript: ENST00000288532
  gene symbol: COQ5
  hgvsc: ENST00000288532.6:c.374T>G
  hgvsp: ENSP00000288532.6:p.Leu125Arg
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449863
  ensembl transcript: ENST00000552443
  gene symbol: COQ5
  hgvsc: ENST00000552443.1:c.131T>G
  hgvsp: ENSP00000449863.1:p.Leu44Arg
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000450001
  ensembl transcript: ENST00000551769
  gene symbol: COQ5
  hgvsc: ENST00000551769.1:c.131T>G
  hgvsp: ENSP00000450001.1:p.Leu44Arg
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449874
  ensembl transcript: ENST00000547943
  gene symbol: COQ5
  hgvsc: ENST00000547943.1:c.224T>G
  hgvsp: ENSP00000449874.1:p.Leu75Arg
  variant of: http://identifiers.org/hgnc/28722
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2788
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4401
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4680
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1878
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5660
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6734
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4650
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3410
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5748
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6564
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2441
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7143
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39315
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3525
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3236
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu125Arg
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-120954576-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120954576
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120954576
    reference: chr 12
allele count: 3
allele frequency: 2.472269378471478e-5
allele num: 121346
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449863
  ensembl transcript: ENST00000552443
  gene symbol: COQ5
  hgvsc: ENST00000552443.1:c.125G>A
  hgvsp: ENSP00000449863.1:p.Arg42Gln
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449874
  ensembl transcript: ENST00000547943
  gene symbol: COQ5
  hgvsc: ENST00000547943.1:c.218G>A
  hgvsp: ENSP00000449874.1:p.Arg73Gln
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000401798
  ensembl transcript: ENST00000445328
  gene symbol: COQ5
  hgvsc: ENST00000445328.2:c.352+5441G>A
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000450001
  ensembl transcript: ENST00000551769
  gene symbol: COQ5
  hgvsc: ENST00000551769.1:c.125G>A
  hgvsp: ENSP00000450001.1:p.Arg42Gln
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000288532
  ensembl transcript: ENST00000288532
  gene symbol: COQ5
  hgvsc: ENST00000288532.6:c.368G>A
  hgvsp: ENSP00000288532.6:p.Arg123Gln
  variant of: http://identifiers.org/hgnc/28722
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3410
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4673
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2439
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6734
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4402
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4650
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2780
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5748
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7143
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1878
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6566
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5660
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3526
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3232
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5307
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2837
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg123Gln
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Other
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

12-120954577-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120954577
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120954577
    reference: chr 12
allele count: 3
allele frequency: 2.472717681579902e-5
allele num: 121324
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000450001
  ensembl transcript: ENST00000551769
  gene symbol: COQ5
  hgvsc: ENST00000551769.1:c.124C>T
  hgvsp: ENSP00000450001.1:p.Arg42Trp
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000401798
  ensembl transcript: ENST00000445328
  gene symbol: COQ5
  hgvsc: ENST00000445328.2:c.352+5440C>T
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449874
  ensembl transcript: ENST00000547943
  gene symbol: COQ5
  hgvsc: ENST00000547943.1:c.217C>T
  hgvsp: ENSP00000449874.1:p.Arg73Trp
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000288532
  ensembl transcript: ENST00000288532
  gene symbol: COQ5
  hgvsc: ENST00000288532.6:c.367C>T
  hgvsp: ENSP00000288532.6:p.Arg123Trp
  variant of: http://identifiers.org/hgnc/28722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110871
  ensembl protein: ENSP00000449863
  ensembl transcript: ENST00000552443
  gene symbol: COQ5
  hgvsc: ENST00000552443.1:c.124C>T
  hgvsp: ENSP00000449863.1:p.Arg42Trp
  variant of: http://identifiers.org/hgnc/28722
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2773
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1879
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4650
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5660
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7143
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4673
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6566
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3410
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6734
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2439
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4400
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5749
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3526
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1708
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2835
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5279
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg123Trp
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9683
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3911
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2708
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4177
bin: 7.75e1
variant carriers: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
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: 66726
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.989e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.25e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.7e-2

FS
type: SiteQuality
SIO_000300: 2.493e0

VQSLOD
type: SiteQuality
SIO_000300: 8.93e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.27e-1

MQ
type: SiteQuality
SIO_000300: 5.937e1

QD
type: SiteQuality
SIO_000300: 1.317e1

DP
type: SiteQuality
SIO_000300: 3.142281e6

GenotypeQuality
all individuals: 11
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2316
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3910
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2708
bin: 7.25e1
variant carriers: 0

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

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

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.27e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.68e-1

FS
type: SiteQuality
SIO_000300: 1.103e0

MQRankSum
type: SiteQuality
SIO_000300: 4.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.94e-1

QD
type: SiteQuality
SIO_000300: 1.495e1

MQ
type: SiteQuality
SIO_000300: 5.941e1

DP
type: SiteQuality
SIO_000300: 3.142368e6

ClippingRankSum
type: SiteQuality
SIO_000300: 9.6e-2

GenotypeQuality
all individuals: 4174
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 29555
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3910
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4781
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3498
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9708
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2316
bin: 8.75e1
variant carriers: 0

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

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

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

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.47e0

QD
type: SiteQuality
SIO_000300: 1.407e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

FS
type: SiteQuality
SIO_000300: 2.604e0

MQ
type: SiteQuality
SIO_000300: 5.978e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.049e0

VQSLOD
type: SiteQuality
SIO_000300: 7.47e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.46e-1

DP
type: SiteQuality
SIO_000300: 3.14255e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.599e0

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

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

GenotypeQuality
all individuals: 2317
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 9710
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2706
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 14
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 1.921968095329617e-4
allele num: 10406
num of homozygotes: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.67e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.142673e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 8.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.52e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.506e1

GenotypeQuality
all individuals: 9711
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 29556
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 14
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3910
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3497
bin: 9.25e1
variant carriers: 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: 8654
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
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: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498621268433042e-5
allele num: 66728
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 5.7e-1

MQ
type: SiteQuality
SIO_000300: 5.934e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.21e-1

DP
type: SiteQuality
SIO_000300: 3.142642e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 2.323e0

MQRankSum
type: SiteQuality
SIO_000300: 1.26e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.73e-1

QD
type: SiteQuality
SIO_000300: 1.269e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.69e0

GenotypeQuality
all individuals: 4173
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9708
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2316
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3910
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4783
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2706
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3497
bin: 9.25e1
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: 66728
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

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

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 4.64e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.25e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.93e-1

DP
type: SiteQuality
SIO_000300: 3.142545e6

MQ
type: SiteQuality
SIO_000300: 5.971e1

FS
type: SiteQuality
SIO_000300: 5.453e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 5.2e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.199999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.767e0

GenotypeQuality
all individuals: 10
bin: 3.25e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 29556
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3910
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4173
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66728
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.956e1

MQRankSum
type: SiteQuality
SIO_000300: 6.44e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.657e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

QD
type: SiteQuality
SIO_000300: 1.04e1

DP
type: SiteQuality
SIO_000300: 3.142681e6

FS
type: SiteQuality
SIO_000300: 1.12e0

VQSLOD
type: SiteQuality
SIO_000300: 9.14e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.26e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.68e-1

GenotypeQuality
all individuals: 16
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9709
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2314
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4171
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3907
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29569
bin: 9.75e1
variant carriers: 25

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.028100775193798e-4
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 16
allele frequency: 2.397794029492866e-4
allele num: 66728
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.727712508638562e-4
allele num: 11576
num of homozygotes: 0

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

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

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

Other
type: Population
allele count: 1
allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.33e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.331e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.35e-1

QD
type: SiteQuality
SIO_000300: 1.24e1

VQSLOD
type: SiteQuality
SIO_000300: 5.68e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.99e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.6e-1

DP
type: SiteQuality
SIO_000300: 3.144507e6

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

GenotypeQuality
all individuals: 2708
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3908
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29558
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 10
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4173
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66730
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.74e-1

DP
type: SiteQuality
SIO_000300: 3.143214e6

MQ
type: SiteQuality
SIO_000300: 5.977e1

MQRankSum
type: SiteQuality
SIO_000300: 1.32e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.186e0

QD
type: SiteQuality
SIO_000300: 1.014e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.41e-1

FS
type: SiteQuality
SIO_000300: 1.39e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.1e-1

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

GenotypeQuality
all individuals: 24
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4173
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9698
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2708
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3498
bin: 9.25e1
variant carriers: 0

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

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

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

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

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

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

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

DP
type: SiteQuality
SIO_000300: 3.143046e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.168e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 1.827e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.23e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.0e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.43e-1

QD
type: SiteQuality
SIO_000300: 1.395e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.81e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 12
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2316
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3498
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4771
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3908
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4174
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29559
bin: 9.75e1
variant carriers: 1

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: 10406
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.481e1

MQRankSum
type: SiteQuality
SIO_000300: -3.95e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.899e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.27e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 5.95e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.6e0

MQ
type: SiteQuality
SIO_000300: 5.978e1

DP
type: SiteQuality
SIO_000300: 3.143112e6

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

GenotypeQuality
all individuals: 3908
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9698
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2706
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29559
bin: 9.75e1
variant carriers: 1

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

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

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

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 4.49e0

FS
type: SiteQuality
SIO_000300: 3.708e0

QD
type: SiteQuality
SIO_000300: 1.237e1

MQRankSum
type: SiteQuality
SIO_000300: 1.15e0

VQSLOD
type: SiteQuality
SIO_000300: 3.79e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.8e-1

DP
type: SiteQuality
SIO_000300: 3.143037e6

MQ
type: SiteQuality
SIO_000300: 5.923e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

GenotypeQuality
all individuals: 2316
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3909
bin: 8.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 4171
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29564
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 3497
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.995024129972123e-5
allele num: 66722
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.668e0

MQRankSum
type: SiteQuality
SIO_000300: 4.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.054e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

DP
type: SiteQuality
SIO_000300: 3.143178e6

FS
type: SiteQuality
SIO_000300: 1.284e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.3e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.91e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.9e-2

QD
type: SiteQuality
SIO_000300: 1.264e1

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

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

GenotypeQuality
all individuals: 9531
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2708
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4744
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29556
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2311
bin: 8.75e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997691777331455e-5
allele num: 66718
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.855e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.69e-1

DP
type: SiteQuality
SIO_000300: 3.142055e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.958e0

VQSLOD
type: SiteQuality
SIO_000300: 1.43e0

MQ
type: SiteQuality
SIO_000300: 5.988e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.76e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.136e1

MQRankSum
type: SiteQuality
SIO_000300: 5.95e-1

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

GenotypeQuality
all individuals: 2704
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4164
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3498
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3911
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29555
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2312
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66716
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 1.921968095329617e-4
allele num: 10406
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.02e0

DP
type: SiteQuality
SIO_000300: 3.141255e6

MQRankSum
type: SiteQuality
SIO_000300: -6.04e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

VQSLOD
type: SiteQuality
SIO_000300: 1.37e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.41e0

QD
type: SiteQuality
SIO_000300: 1.247e1

FS
type: SiteQuality
SIO_000300: 4.406e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.31e-1

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

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2268
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4579
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30040
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2641
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4082
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3449
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66704
num of homozygotes: 0

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 5.2e-2

DP
type: SiteQuality
SIO_000300: 3.173459e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.27e0

MQRankSum
type: SiteQuality
SIO_000300: 2.11e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-2

MQ
type: SiteQuality
SIO_000300: 5.969e1

VQSLOD
type: SiteQuality
SIO_000300: 5.94e0

QD
type: SiteQuality
SIO_000300: 1.711e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.45e-1

GenotypeQuality
all individuals: 103
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8834
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3449
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 197
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2268
bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 72
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 30040
bin: 9.75e1
variant carriers: 1113

African
type: Population
allele count: 1098
allele frequency: 1.055363321799308e-1
allele num: 10404
num of homozygotes: 68

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

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

European (Non-Finnish)
type: Population
allele count: 16
allele frequency: 2.398656752218757e-4
allele num: 66704
num of homozygotes: 0

Latino
type: Population
allele count: 63
allele frequency: 5.443234836702955e-3
allele num: 11574
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.817080557238038e-4
allele num: 16510
num of homozygotes: 0

Other
type: Population
allele count: 6
allele frequency: 6.607929515418502e-3
allele num: 908
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.94e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-2

QD
type: SiteQuality
SIO_000300: 1.711e1

MQRankSum
type: SiteQuality
SIO_000300: 2.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.27e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.2e-2

MQ
type: SiteQuality
SIO_000300: 5.969e1

DP
type: SiteQuality
SIO_000300: 3.173459e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.45e-1

GenotypeQuality
all individuals: 440
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4135
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3501
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8072
bin: 6.25e1
variant carriers: 0

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

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
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: 66708
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.27e0

MQ
type: SiteQuality
SIO_000300: 5.946e1

VQSLOD
type: SiteQuality
SIO_000300: -1.07e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.08e-1

DP
type: SiteQuality
SIO_000300: 3.151799e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.108e0

QD
type: SiteQuality
SIO_000300: 1.631e1

FS
type: SiteQuality
SIO_000300: 2.499e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.39e0

GenotypeQuality
all individuals: 920
bin: 6.75e1
variant carriers: 901

GenotypeQuality
all individuals: 87
bin: 4.25e1
variant carriers: 86

GenotypeQuality
all individuals: 1488
bin: 8.25e1
variant carriers: 1488

GenotypeQuality
all individuals: 52119
bin: 9.75e1
variant carriers: 52100

GenotypeQuality
all individuals: 1249
bin: 7.75e1
variant carriers: 1244

GenotypeQuality
all individuals: 653
bin: 6.25e1
variant carriers: 608

GenotypeQuality
all individuals: 822
bin: 8.75e1
variant carriers: 821

African
type: Population
allele count: 9935
allele frequency: 9.552884615384616e-1
allele num: 10400
num of homozygotes: 4749

European (Finnish)
type: Population
allele count: 6563
allele frequency: 9.922890837617175e-1
allele num: 6614
num of homozygotes: 3256

Other
type: Population
allele count: 882
allele frequency: 9.735099337748344e-1
allele num: 906
num of homozygotes: 429

South Asian
type: Population
allele count: 15679
allele frequency: 9.496668685645063e-1
allele num: 16510
num of homozygotes: 7452

Latino
type: Population
allele count: 11294
allele frequency: 9.761452031114952e-1
allele num: 11570
num of homozygotes: 5510

East Asian
type: Population
allele count: 7609
allele frequency: 8.802637667746414e-1
allele num: 8644
num of homozygotes: 3351

European (Non-Finnish)
type: Population
allele count: 66481
allele frequency: 9.969258914914675e-1
allele num: 66686
num of homozygotes: 33138

MQRankSum
type: SiteQuality
SIO_000300: 6.0e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -7.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 6.27e-1

FS
type: SiteQuality
SIO_000300: 7.71e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.81e0

QD
type: SiteQuality
SIO_000300: 2.892e1

MQ
type: SiteQuality
SIO_000300: 5.974e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.86e-2

DP
type: SiteQuality
SIO_000300: 3.928249e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e-1

GenotypeQuality
all individuals: 865
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 745
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20845
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1791
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2453
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2024
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2602
bin: 7.75e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8556
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11470
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16352
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6514
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.628463322348346e-5
allele num: 65544
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -6.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.6e-2

DP
type: SiteQuality
SIO_000300: 2.213209e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.850000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.434e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.21e0

FS
type: SiteQuality
SIO_000300: 1.198e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.871e0

GenotypeQuality
all individuals: 3627
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1234
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 554
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1778
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1216
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5993
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 724
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.172058134083451e-4
allele num: 8532
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10284
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16362
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.527603800678256e-5
allele num: 65462
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.96e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.83e0

FS
type: SiteQuality
SIO_000300: 4.455e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.81e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.099e0

QD
type: SiteQuality
SIO_000300: 1.014e1

DP
type: SiteQuality
SIO_000300: 2.178299e6

GenotypeQuality
all individuals: 515
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2536
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1761
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1073
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3675
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 721
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10278
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6506
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11454
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.592492805094605e-5
allele num: 65324
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 2.79e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.081e0

MQRankSum
type: SiteQuality
SIO_000300: -2.18e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.87e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.166519e6

QD
type: SiteQuality
SIO_000300: 1.288e1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65164
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11442
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10258
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16322
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.526922172584058e-4
allele num: 8506
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.15e0

QD
type: SiteQuality
SIO_000300: 1.276e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.931e0

DP
type: SiteQuality
SIO_000300: 2.129784e6

ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 5.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.87e0

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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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16324
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.536948235583426e-5
allele num: 65064
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.81e-1

QD
type: SiteQuality
SIO_000300: 2.88e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.06e-1

DP
type: SiteQuality
SIO_000300: 2.128337e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.5e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.81e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.44e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.125949522175937e-5
allele num: 16324
num of homozygotes: 0

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

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

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.06e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.81e-1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 2.88e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.81e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.128337e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.5e-2

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
all individuals: 3694
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11406
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10230
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.538461538461538e-5
allele num: 65000
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16306
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.281e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.64e0

MQRankSum
type: SiteQuality
SIO_000300: -4.2e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

DP
type: SiteQuality
SIO_000300: 2.116818e6

MQ
type: SiteQuality
SIO_000300: 5.941e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e0

VQSLOD
type: SiteQuality
SIO_000300: 8.95e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1062
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GenotypeQuality
all individuals: 2029
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variant carriers: 0

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

South Asian
type: Population
allele count: 4
allele frequency: 2.486943546381497e-4
allele num: 16084
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8288
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10114
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.565974505935043e-5
allele num: 63858
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11282
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6426
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.62e-1

DP
type: SiteQuality
SIO_000300: 2.076831e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.81e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.92e0

QD
type: SiteQuality
SIO_000300: 1.299e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

MQ
type: SiteQuality
SIO_000300: 5.947e1

FS
type: SiteQuality
SIO_000300: 1.993e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.07e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.049e0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
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: 1
allele frequency: 1.499790029395885e-5
allele num: 66676
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: 16512
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 5.040631e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
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MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 9.140000000000001e0

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.499505054444011e-5
allele num: 66674
num of homozygotes: 0

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

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

European (Finnish)
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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: 16512
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.974e0

MQRankSum
type: SiteQuality
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ClippingRankSum
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DP
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BaseQRankSum
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.734e1

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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variant carriers: 39

South Asian
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allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

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

East Asian
type: Population
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allele frequency: 2.31107002542177e-4
allele num: 8654
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

Other
type: Population
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allele num: 906
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.619084263178146e-5
allele num: 10396
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 33
allele frequency: 4.946636287324619e-4
allele num: 66712
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.73e-1

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
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SIO_000300: 5.046344e6

InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
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FS
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

South Asian
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allele count: 3
allele frequency: 1.817300702689605e-4
allele num: 16508
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Other
type: Population
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Latino
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num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66654
num of homozygotes: 0

East Asian
type: Population
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allele num: 8650
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ClippingRankSum
type: SiteQuality
SIO_000300: -7.87e-1

MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 6.01e-1

DP
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QD
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2238
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variant carriers: 0

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

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

South Asian
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
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Other
type: Population
allele count: 0
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allele num: 908
num of homozygotes: 0

Latino
type: Population
allele count: 0
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allele num: 11578
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.66e-1

DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.21e-1

QD
type: SiteQuality
SIO_000300: 9.17e0

VQSLOD
type: SiteQuality
SIO_000300: -4.701e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.66e0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

African
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South Asian
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East Asian
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allele frequency: 0.0e0
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Other
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allele num: 908
num of homozygotes: 0

Latino
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num of homozygotes: 0

VQSLOD
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ClippingRankSum
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FS
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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MQ
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QD
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ReadPosRankSum
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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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variant carriers: 0

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

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

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

MQ
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BaseQRankSum
type: SiteQuality
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FS
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SIO_000300: 0.0e0

MQRankSum
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ClippingRankSum
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DP
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InbreedingCoeff
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VQSLOD
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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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Latino
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South Asian
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Other
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European (Non-Finnish)
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African
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East Asian
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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

MQ
type: SiteQuality
SIO_000300: 5.967e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.76e-1

MQRankSum
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DP
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FS
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VQSLOD
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QD
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ClippingRankSum
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BaseQRankSum
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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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variant carriers: 0

European (Finnish)
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allele frequency: 0.0e0
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East Asian
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African
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South Asian
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Other
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Latino
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

MQ
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QD
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VQSLOD
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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DP
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FS
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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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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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Latino
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66740
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European (Finnish)
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allele count: 0
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num of homozygotes: 0

Other
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num of homozygotes: 0

South Asian
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allele frequency: 3.633720930232558e-4
allele num: 16512
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MQ
type: SiteQuality
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QD
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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DP
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BaseQRankSum
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ClippingRankSum
type: SiteQuality
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FS
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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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variant carriers: 0

African
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allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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East Asian
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allele num: 8654
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South Asian
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European (Finnish)
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

InbreedingCoeff
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SIO_000300: -1.0e-4

ClippingRankSum
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VQSLOD
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MQRankSum
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MQ
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FS
type: SiteQuality
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ReadPosRankSum
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BaseQRankSum
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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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South Asian
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allele num: 16512
num of homozygotes: 0

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

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

African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

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

South Asian
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Other
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num of homozygotes: 0

DP
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InbreedingCoeff
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MQRankSum
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MQ
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BaseQRankSum
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QD
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FS
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VQSLOD
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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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South Asian
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Other
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African
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East Asian
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allele frequency: 0.0e0
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Latino
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European (Finnish)
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allele count: 0
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European (Non-Finnish)
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allele count: 2
allele frequency: 2.996703626011388e-5
allele num: 66740
num of homozygotes: 0

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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MQ
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QD
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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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Other
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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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South Asian
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European (Non-Finnish)
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FS
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DP
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BaseQRankSum
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ClippingRankSum
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QD
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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MQ
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Finnish)
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 9.609840476648087e-5
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Other
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South Asian
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allele frequency: 3.633720930232558e-4
allele num: 16512
num of homozygotes: 0

MQ
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BaseQRankSum
type: SiteQuality
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DP
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ReadPosRankSum
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MQRankSum
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QD
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VQSLOD
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InbreedingCoeff
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SIO_000300: 7.199999999999999e-2

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

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

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

South Asian
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allele frequency: 4.239341085271318e-4
allele num: 16512
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East Asian
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allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

African
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allele frequency: 0.0e0
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VQSLOD
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MQ
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ReadPosRankSum
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BaseQRankSum
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FS
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QD
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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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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variant carriers: 0

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

Latino
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South Asian
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allele frequency: 1.332364341085271e-3
allele num: 16512
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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African
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allele frequency: 0.0e0
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East Asian
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Other
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MQRankSum
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VQSLOD
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FS
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QD
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BaseQRankSum
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DP
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ClippingRankSum
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MQ
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InbreedingCoeff
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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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allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

Other
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European (Finnish)
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South Asian
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allele num: 16512
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Latino
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East Asian
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allele frequency: 4.622140050843541e-4
allele num: 8654
num of homozygotes: 0

African
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num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
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East Asian
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

African
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allele count: 0
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allele num: 10406
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.94e-1

ClippingRankSum
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QD
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BaseQRankSum
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SIO_000300: -4.958e0

MQRankSum
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DP
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MQ
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VQSLOD
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InbreedingCoeff
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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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South Asian
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Other
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East Asian
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allele frequency: 6.933210076265311e-4
allele num: 8654
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European (Finnish)
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African
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Latino
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num of homozygotes: 0

European (Non-Finnish)
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QD
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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DP
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BaseQRankSum
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ClippingRankSum
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FS
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MQRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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European (Finnish)
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South Asian
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African
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European (Non-Finnish)
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East Asian
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VQSLOD
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FS
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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QD
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DP
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MQ
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MQRankSum
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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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East Asian
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Other
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African
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European (Finnish)
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European (Non-Finnish)
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Latino
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allele num: 11578
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South Asian
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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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InbreedingCoeff
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MQ
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DP
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VQSLOD
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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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East Asian
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Latino
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Other
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African
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European (Non-Finnish)
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European (Finnish)
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South Asian
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BaseQRankSum
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DP
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MQ
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FS
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VQSLOD
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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Latino
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East Asian
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Other
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South Asian
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European (Non-Finnish)
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QD
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ClippingRankSum
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FS
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VQSLOD
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MQ
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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DP
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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Latino
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European (Finnish)
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Other
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African
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South Asian
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FS
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InbreedingCoeff
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SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -6.46e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.32e0

MQ
type: SiteQuality
SIO_000300: 5.989e1

QD
type: SiteQuality
SIO_000300: 1.626e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.1e-2

DP
type: SiteQuality
SIO_000300: 5.036736e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.81e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.64e0

GenotypeQuality
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bin: 2.5e0
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: 1

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

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

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

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

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

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

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

FS
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.626e1

DP
type: SiteQuality
SIO_000300: 5.036736e6

VQSLOD
type: SiteQuality
SIO_000300: 1.32e0

MQRankSum
type: SiteQuality
SIO_000300: -6.46e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.1e-2

MQ
type: SiteQuality
SIO_000300: 5.989e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.81e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.64e0

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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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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East Asian
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allele num: 8652
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66740
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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African
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allele frequency: 0.0e0
allele num: 10406
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.877e1

MQRankSum
type: SiteQuality
SIO_000300: 1.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.58e0

FS
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.850000000000001e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 1.429e0

ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
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MQ
type: SiteQuality
SIO_000300: 5.957e1

InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.02e0

BaseQRankSum
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SIO_000300: -2.954e0

QD
type: SiteQuality
SIO_000300: 1.092e1

DP
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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
all individuals: 0
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variant carriers: 0

Latino
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allele count: 1231
allele frequency: 1.063223354638107e-1
allele num: 11578
num of homozygotes: 71

European (Finnish)
type: Population
allele count: 835
allele frequency: 1.262473540973692e-1
allele num: 6614
num of homozygotes: 52

South Asian
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allele count: 1277
allele frequency: 7.733769379844961e-2
allele num: 16512
num of homozygotes: 66

European (Non-Finnish)
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allele count: 7703
allele frequency: 1.154180401558286e-1
allele num: 66740
num of homozygotes: 465

African
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allele count: 2681
allele frequency: 2.576398231789352e-1
allele num: 10406
num of homozygotes: 346

East Asian
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allele count: 563
allele frequency: 6.505662121562283e-2
allele num: 8654
num of homozygotes: 18

Other
type: Population
allele count: 89
allele frequency: 9.801762114537445e-2
allele num: 908
num of homozygotes: 2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.24e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

FS
type: SiteQuality
SIO_000300: 1.142e0

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 5.22e0

MQRankSum
type: SiteQuality
SIO_000300: 1.09e-1

DP
type: SiteQuality
SIO_000300: 5.58017e6

BaseQRankSum
type: SiteQuality
SIO_000300: -8.148e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66740
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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East Asian
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allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.55e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
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MQ
type: SiteQuality
SIO_000300: 5.958e1

FS
type: SiteQuality
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VQSLOD
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DP
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BaseQRankSum
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QD
type: SiteQuality
SIO_000300: 1.224e1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
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Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

South Asian
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allele num: 16512
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BaseQRankSum
type: SiteQuality
SIO_000300: 4.4e-1

ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.988e1

FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
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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

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

Latino
type: Population
allele count: 2
allele frequency: 1.727414061150458e-4
allele num: 11578
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
allele num: 8654
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 0
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allele num: 16512
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ReadPosRankSum
type: SiteQuality
SIO_000300: 7.78e-1

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 13

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

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

African
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European (Finnish)
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allele frequency: 4.535833081342606e-4
allele num: 6614
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 10
allele frequency: 1.498351813005694e-4
allele num: 66740
num of homozygotes: 0

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

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

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

Other
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

East Asian
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VQSLOD
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MQRankSum
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InbreedingCoeff
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DP
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ClippingRankSum
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
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ReadPosRankSum
type: SiteQuality
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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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variant carriers: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Other
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66738
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South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
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African
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
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DP
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FS
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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VQSLOD
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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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East Asian
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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 frequency: 0.0e0
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Other
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -9.907e-1

QD
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SIO_000300: 1.59e1

InbreedingCoeff
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MQ
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SIO_000300: 5.979e1

MQRankSum
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ReadPosRankSum
type: SiteQuality
SIO_000300: -2.74e-1

DP
type: SiteQuality
SIO_000300: 3.407991e6

BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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variant carriers: 1

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

African
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allele num: 10386
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.185e0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 5
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66738
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Latino
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allele num: 11578
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8654
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Other
type: Population
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.292e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.76e-1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.05e-2

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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MQRankSum
type: SiteQuality
SIO_000300: -1.0e-1

DP
type: SiteQuality
SIO_000300: 3.407761e6

MQ
type: SiteQuality
SIO_000300: 5.968e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 56

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

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

African
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allele count: 50
allele frequency: 4.814172925091469e-3
allele num: 10386
num of homozygotes: 0

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

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

Latino
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allele count: 5
allele frequency: 4.318535152876144e-4
allele num: 11578
num of homozygotes: 0

South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

Other
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allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.292e1

BaseQRankSum
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SIO_000300: -2.314e0

MQRankSum
type: SiteQuality
SIO_000300: -1.0e-1

VQSLOD
type: SiteQuality
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MQ
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DP
type: SiteQuality
SIO_000300: 3.407761e6

FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 6.02e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.76e-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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bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 16512
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.94e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

MQRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 3.400938e6

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
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FS
type: SiteQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

Other
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 2.997062878379188e-5
allele num: 66732
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10366
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DP
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 6.06e-1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.943e1

BaseQRankSum
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8654
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
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

FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
type: SiteQuality
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BaseQRankSum
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QD
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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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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

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

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

South Asian
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allele frequency: 0.0e0
allele num: 16512
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
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num of homozygotes: 0

BaseQRankSum
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VQSLOD
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FS
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MQ
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QD
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DP
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InbreedingCoeff
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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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variant carriers: 0

Latino
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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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African
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Other
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allele num: 908
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MQRankSum
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InbreedingCoeff
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MQ
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BaseQRankSum
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VQSLOD
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QD
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FS
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ReadPosRankSum
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DP
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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