2-37468923-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37468923
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 37468923
    reference: chr 2
allele count: 1
allele frequency: 8.34599142032082e-6
allele num: 119818
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000337431
  ensembl transcript: ENST00000336237
  gene symbol: NDUFAF7
  hgvsc: ENST00000336237.6:c.387+143A>T
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000399207
  ensembl transcript: ENST00000431821
  gene symbol: NDUFAF7
  hgvsc: ENST00000431821.1:c.374A>T
  hgvsp: ENSP00000399207.1:p.Asp125Val
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000469831
  gene symbol: NDUFAF7
  hgvsc: ENST00000469831.1:n.669A>T
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000002125
  ensembl transcript: ENST00000002125
  gene symbol: NDUFAF7
  hgvsc: ENST00000002125.4:c.611A>T
  hgvsp: ENSP00000002125.4:p.Asp204Val
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000394436
  ensembl transcript: ENST00000439218
  gene symbol: NDUFAF7
  hgvsc: ENST00000439218.1:c.485A>T
  hgvsp: ENSP00000394436.1:p.Asp162Val
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000483999
  gene symbol: NDUFAF7
  hgvsc: ENST00000483999.1:n.386A>T
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474154
  gene symbol: NDUFAF7
  hgvsc: ENST00000474154.1:n.654A>T
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000416594
  ensembl transcript: ENST00000455230
  gene symbol: NDUFAF7
  hgvsc: ENST00000455230.1:c.*22+143A>T
  variant of: http://identifiers.org/hgnc/28816
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16478
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36420
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3779
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4294
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1552
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 780
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asp204Val
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

2-37468923-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37468923
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 37468923
    reference: chr 2
allele count: 1
allele frequency: 8.34599142032082e-6
allele num: 119818
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000469831
  gene symbol: NDUFAF7
  hgvsc: ENST00000469831.1:n.669A>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000394436
  ensembl transcript: ENST00000439218
  gene symbol: NDUFAF7
  hgvsc: ENST00000439218.1:c.485A>G
  hgvsp: ENSP00000394436.1:p.Asp162Gly
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000399207
  ensembl transcript: ENST00000431821
  gene symbol: NDUFAF7
  hgvsc: ENST00000431821.1:c.374A>G
  hgvsp: ENSP00000399207.1:p.Asp125Gly
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474154
  gene symbol: NDUFAF7
  hgvsc: ENST00000474154.1:n.654A>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000002125
  ensembl transcript: ENST00000002125
  gene symbol: NDUFAF7
  hgvsc: ENST00000002125.4:c.611A>G
  hgvsp: ENSP00000002125.4:p.Asp204Gly
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000416594
  ensembl transcript: ENST00000455230
  gene symbol: NDUFAF7
  hgvsc: ENST00000455230.1:c.*22+143A>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000483999
  gene symbol: NDUFAF7
  hgvsc: ENST00000483999.1:n.386A>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000337431
  ensembl transcript: ENST00000336237
  gene symbol: NDUFAF7
  hgvsc: ENST00000336237.6:c.387+143A>G
  variant of: http://identifiers.org/hgnc/28816
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16478
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36420
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3779
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1552
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 780
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4294
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asp204Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP

2-37468934-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37468934
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 37468934
    reference: chr 2
allele count: 1
allele frequency: 8.451085119329322e-6
allele num: 118328
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000483999
  gene symbol: NDUFAF7
  hgvsc: ENST00000483999.1:n.397G>A
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000002125
  ensembl transcript: ENST00000002125
  gene symbol: NDUFAF7
  hgvsc: ENST00000002125.4:c.622G>A
  hgvsp: ENSP00000002125.4:p.Gly208Arg
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474154
  gene symbol: NDUFAF7
  hgvsc: ENST00000474154.1:n.665G>A
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000469831
  gene symbol: NDUFAF7
  hgvsc: ENST00000469831.1:n.680G>A
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000394436
  ensembl transcript: ENST00000439218
  gene symbol: NDUFAF7
  hgvsc: ENST00000439218.1:c.496G>A
  hgvsp: ENSP00000394436.1:p.Gly166Arg
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000416594
  ensembl transcript: ENST00000455230
  gene symbol: NDUFAF7
  hgvsc: ENST00000455230.1:c.*22+154G>A
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000399207
  ensembl transcript: ENST00000431821
  gene symbol: NDUFAF7
  hgvsc: ENST00000431821.1:c.385G>A
  hgvsp: ENSP00000399207.1:p.Gly129Arg
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000337431
  ensembl transcript: ENST00000336237
  gene symbol: NDUFAF7
  hgvsc: ENST00000336237.6:c.387+154G>A
  variant of: http://identifiers.org/hgnc/28816
canonical: true
consequence: missense
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 2565
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34936
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3657
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15706
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3153
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 776
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly208Arg
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD

2-37468934-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37468934
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 37468934
    reference: chr 2
allele count: 1
allele frequency: 8.451085119329322e-6
allele num: 118328
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000399207
  ensembl transcript: ENST00000431821
  gene symbol: NDUFAF7
  hgvsc: ENST00000431821.1:c.385G>C
  hgvsp: ENSP00000399207.1:p.Gly129Arg
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000483999
  gene symbol: NDUFAF7
  hgvsc: ENST00000483999.1:n.397G>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000394436
  ensembl transcript: ENST00000439218
  gene symbol: NDUFAF7
  hgvsc: ENST00000439218.1:c.496G>C
  hgvsp: ENSP00000394436.1:p.Gly166Arg
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000002125
  ensembl transcript: ENST00000002125
  gene symbol: NDUFAF7
  hgvsc: ENST00000002125.4:c.622G>C
  hgvsp: ENSP00000002125.4:p.Gly208Arg
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000416594
  ensembl transcript: ENST00000455230
  gene symbol: NDUFAF7
  hgvsc: ENST00000455230.1:c.*22+154G>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000337431
  ensembl transcript: ENST00000336237
  gene symbol: NDUFAF7
  hgvsc: ENST00000336237.6:c.387+154G>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000469831
  gene symbol: NDUFAF7
  hgvsc: ENST00000469831.1:n.680G>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474154
  gene symbol: NDUFAF7
  hgvsc: ENST00000474154.1:n.665G>C
  variant of: http://identifiers.org/hgnc/28816
canonical: true
consequence: missense
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3657
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34936
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15706
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2565
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48418
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 778
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly208Arg
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

2-37468934-G-GAA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37468934
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 37468936
    reference: chr 2
allele count: 1
allele frequency: 8.451085119329322e-6
allele num: 118328
alternate allele: GAA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474154
  gene symbol: NDUFAF7
  hgvsc: ENST00000474154.1:n.665_666insAA
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000399207
  ensembl transcript: ENST00000431821
  gene symbol: NDUFAF7
  hgvsc: ENST00000431821.1:c.385_385+1insAA
  hgvsp: ENSP00000399207.1:p.Gly129GlufsTer42
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000337431
  ensembl transcript: ENST00000336237
  gene symbol: NDUFAF7
  hgvsc: ENST00000336237.6:c.387+154_387+155insAA
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000483999
  gene symbol: NDUFAF7
  hgvsc: ENST00000483999.1:n.397_397+1insAA
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000416594
  ensembl transcript: ENST00000455230
  gene symbol: NDUFAF7
  hgvsc: ENST00000455230.1:c.*22+154_*22+155insAA
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000394436
  ensembl transcript: ENST00000439218
  gene symbol: NDUFAF7
  hgvsc: ENST00000439218.1:c.496_496+1insAA
  hgvsp: ENSP00000394436.1:p.Gly166GlufsTer42
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000002125
  ensembl transcript: ENST00000002125
  gene symbol: NDUFAF7
  hgvsc: ENST00000002125.4:c.622_622+1insAA
  hgvsp: ENSP00000002125.4:p.Gly208GlufsTer42
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000469831
  gene symbol: NDUFAF7
  hgvsc: ENST00000469831.1:n.680_681insAA
  variant of: http://identifiers.org/hgnc/28816
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3657
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2565
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34936
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15706
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly208GlufsTer42
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

2-37468934-G-GAAGAAAAAAAAATACAATGTGTTAA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37468934
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 37468959
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 118328
alternate allele: GAAGAAAAAAAAATACAATGTGTTAA
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000002125
  ensembl transcript: ENST00000002125
  gene symbol: NDUFAF7
  hgvsp: ENSP00000002125.4:p.Gly208GlufsTer17
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000399207
  ensembl transcript: ENST00000431821
  gene symbol: NDUFAF7
  hgvsp: ENSP00000399207.1:p.Gly129GlufsTer17
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000337431
  ensembl transcript: ENST00000336237
  gene symbol: NDUFAF7
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000394436
  ensembl transcript: ENST00000439218
  gene symbol: NDUFAF7
  hgvsp: ENSP00000394436.1:p.Gly166GlufsTer17
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000469831
  gene symbol: NDUFAF7
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474154
  gene symbol: NDUFAF7
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000416594
  ensembl transcript: ENST00000455230
  gene symbol: NDUFAF7
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000483999
  gene symbol: NDUFAF7
  variant of: http://identifiers.org/hgnc/28816
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3657
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34936
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2565
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15706
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 776
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 830
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly208GlufsTer17
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD

2-37468935-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37468935
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 37468935
    reference: chr 2
allele count: 4
allele frequency: 3.388165139168883e-5
allele num: 118058
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000483999
  gene symbol: NDUFAF7
  hgvsc: ENST00000483999.1:n.397+1G>T
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000394436
  ensembl transcript: ENST00000439218
  gene symbol: NDUFAF7
  hgvsc: ENST00000439218.1:c.496+1G>T
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000399207
  ensembl transcript: ENST00000431821
  gene symbol: NDUFAF7
  hgvsc: ENST00000431821.1:c.385+1G>T
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000002125
  ensembl transcript: ENST00000002125
  gene symbol: NDUFAF7
  hgvsc: ENST00000002125.4:c.622+1G>T
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000416594
  ensembl transcript: ENST00000455230
  gene symbol: NDUFAF7
  hgvsc: ENST00000455230.1:c.*22+155G>T
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000337431
  ensembl transcript: ENST00000336237
  gene symbol: NDUFAF7
  hgvsc: ENST00000336237.6:c.387+155G>T
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474154
  gene symbol: NDUFAF7
  hgvsc: ENST00000474154.1:n.666G>T
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000469831
  gene symbol: NDUFAF7
  hgvsc: ENST00000469831.1:n.681G>T
  variant of: http://identifiers.org/hgnc/28816
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34640
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15571
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3643
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1607
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2844
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4046
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 778
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 773
  bin: 7.75e1
  variant carriers: 0
hgvs: c.622+1G>T
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS

2-37468940-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37468940
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 37468940
    reference: chr 2
allele count: 1
allele frequency: 8.580597552813579e-6
allele num: 116542
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000394436
  ensembl transcript: ENST00000439218
  gene symbol: NDUFAF7
  hgvsc: ENST00000439218.1:c.496+6T>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000483999
  gene symbol: NDUFAF7
  hgvsc: ENST00000483999.1:n.397+6T>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000399207
  ensembl transcript: ENST00000431821
  gene symbol: NDUFAF7
  hgvsc: ENST00000431821.1:c.385+6T>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474154
  gene symbol: NDUFAF7
  hgvsc: ENST00000474154.1:n.671T>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000416594
  ensembl transcript: ENST00000455230
  gene symbol: NDUFAF7
  hgvsc: ENST00000455230.1:c.*22+160T>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000002125
  ensembl transcript: ENST00000002125
  gene symbol: NDUFAF7
  hgvsc: ENST00000002125.4:c.622+6T>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000469831
  gene symbol: NDUFAF7
  hgvsc: ENST00000469831.1:n.686T>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000337431
  ensembl transcript: ENST00000336237
  gene symbol: NDUFAF7
  hgvsc: ENST00000336237.6:c.387+160T>C
  variant of: http://identifiers.org/hgnc/28816
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32428
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3514
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4903
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2325
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14664
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 783
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5346
  bin: 2.25e1
  variant carriers: 0
hgvs: c.622+6T>C
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: VQSLOD

2-37468943-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37468943
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 37468943
    reference: chr 2
allele count: 1
allele frequency: 8.636324380343726e-6
allele num: 115790
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000469831
  gene symbol: NDUFAF7
  hgvsc: ENST00000469831.1:n.689C>T
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000002125
  ensembl transcript: ENST00000002125
  gene symbol: NDUFAF7
  hgvsc: ENST00000002125.4:c.622+9C>T
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000337431
  ensembl transcript: ENST00000336237
  gene symbol: NDUFAF7
  hgvsc: ENST00000336237.6:c.387+163C>T
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000416594
  ensembl transcript: ENST00000455230
  gene symbol: NDUFAF7
  hgvsc: ENST00000455230.1:c.*22+163C>T
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474154
  gene symbol: NDUFAF7
  hgvsc: ENST00000474154.1:n.674C>T
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000483999
  gene symbol: NDUFAF7
  hgvsc: ENST00000483999.1:n.397+9C>T
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000394436
  ensembl transcript: ENST00000439218
  gene symbol: NDUFAF7
  hgvsc: ENST00000439218.1:c.496+9C>T
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000399207
  ensembl transcript: ENST00000431821
  gene symbol: NDUFAF7
  hgvsc: ENST00000431821.1:c.385+9C>T
  variant of: http://identifiers.org/hgnc/28816
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31244
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5965
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2655
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3452
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14268
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 774
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1367
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 771
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3678
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6329
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD

2-37468948-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37468948
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 37468948
    reference: chr 2
allele count: 3
allele frequency: 2.637269898201382e-5
allele num: 113754
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000394436
  ensembl transcript: ENST00000439218
  gene symbol: NDUFAF7
  hgvsc: ENST00000439218.1:c.496+14T>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000399207
  ensembl transcript: ENST00000431821
  gene symbol: NDUFAF7
  hgvsc: ENST00000431821.1:c.385+14T>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000416594
  ensembl transcript: ENST00000455230
  gene symbol: NDUFAF7
  hgvsc: ENST00000455230.1:c.*22+168T>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474154
  gene symbol: NDUFAF7
  hgvsc: ENST00000474154.1:n.679T>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000002125
  ensembl transcript: ENST00000002125
  gene symbol: NDUFAF7
  hgvsc: ENST00000002125.4:c.622+14T>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000469831
  gene symbol: NDUFAF7
  hgvsc: ENST00000469831.1:n.694T>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000337431
  ensembl transcript: ENST00000336237
  gene symbol: NDUFAF7
  hgvsc: ENST00000336237.6:c.387+168T>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000483999
  gene symbol: NDUFAF7
  hgvsc: ENST00000483999.1:n.397+14T>C
  variant of: http://identifiers.org/hgnc/28816
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3050
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27166
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12699
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2292
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3592
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10015
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 776
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 706
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3148
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2256
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 715
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

2-37468949-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37468949
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 37468949
    reference: chr 2
allele count: 1
allele frequency: 8.79600309619309e-6
allele num: 113688
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000394436
  ensembl transcript: ENST00000439218
  gene symbol: NDUFAF7
  hgvsc: ENST00000439218.1:c.496+15G>A
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000337431
  ensembl transcript: ENST00000336237
  gene symbol: NDUFAF7
  hgvsc: ENST00000336237.6:c.387+169G>A
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000483999
  gene symbol: NDUFAF7
  hgvsc: ENST00000483999.1:n.397+15G>A
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000416594
  ensembl transcript: ENST00000455230
  gene symbol: NDUFAF7
  hgvsc: ENST00000455230.1:c.*22+169G>A
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000002125
  ensembl transcript: ENST00000002125
  gene symbol: NDUFAF7
  hgvsc: ENST00000002125.4:c.622+15G>A
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000399207
  ensembl transcript: ENST00000431821
  gene symbol: NDUFAF7
  hgvsc: ENST00000431821.1:c.385+15G>A
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474154
  gene symbol: NDUFAF7
  hgvsc: ENST00000474154.1:n.680G>A
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000469831
  gene symbol: NDUFAF7
  hgvsc: ENST00000469831.1:n.695G>A
  variant of: http://identifiers.org/hgnc/28816
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10016
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3031
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2284
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3608
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12735
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27153
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3118
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9474
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37074
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 773
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

2-37468956-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37468956
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 37468956
    reference: chr 2
allele count: 1
allele frequency: 8.911226362972073e-6
allele num: 112218
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000002125
  ensembl transcript: ENST00000002125
  gene symbol: NDUFAF7
  hgvsc: ENST00000002125.4:c.622+22A>T
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000394436
  ensembl transcript: ENST00000439218
  gene symbol: NDUFAF7
  hgvsc: ENST00000439218.1:c.496+22A>T
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000483999
  gene symbol: NDUFAF7
  hgvsc: ENST00000483999.1:n.397+22A>T
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000469831
  gene symbol: NDUFAF7
  hgvsc: ENST00000469831.1:n.702A>T
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000399207
  ensembl transcript: ENST00000431821
  gene symbol: NDUFAF7
  hgvsc: ENST00000431821.1:c.385+22A>T
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000416594
  ensembl transcript: ENST00000455230
  gene symbol: NDUFAF7
  hgvsc: ENST00000455230.1:c.*22+176A>T
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474154
  gene symbol: NDUFAF7
  hgvsc: ENST00000474154.1:n.687A>T
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000337431
  ensembl transcript: ENST00000336237
  gene symbol: NDUFAF7
  hgvsc: ENST00000336237.6:c.387+176A>T
  variant of: http://identifiers.org/hgnc/28816
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2585
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10634
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4202
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4237
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14533
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22583
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2104
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2856
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3457
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30233
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

http://identifiers.org/exac.variant/2-37468975-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37468975
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 37468974
    reference: chr 2
allele count: 4
allele frequency: 3.763076691502973e-5
allele num: 106296
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000416594
  ensembl transcript: ENST00000455230
  gene symbol: NDUFAF7
  hgvsc: ENST00000455230.1:c.*22+197delA
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000002125
  ensembl transcript: ENST00000002125
  gene symbol: NDUFAF7
  hgvsc: ENST00000002125.4:c.622+43delA
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000394436
  ensembl transcript: ENST00000439218
  gene symbol: NDUFAF7
  hgvsc: ENST00000439218.1:c.496+43delA
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474154
  gene symbol: NDUFAF7
  hgvsc: ENST00000474154.1:n.708delA
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000399207
  ensembl transcript: ENST00000431821
  gene symbol: NDUFAF7
  hgvsc: ENST00000431821.1:c.385+43delA
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000469831
  gene symbol: NDUFAF7
  hgvsc: ENST00000469831.1:n.723delA
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000337431
  ensembl transcript: ENST00000336237
  gene symbol: NDUFAF7
  hgvsc: ENST00000336237.6:c.387+197delA
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000483999
  gene symbol: NDUFAF7
  hgvsc: ENST00000483999.1:n.397+43delA
  variant of: http://identifiers.org/hgnc/28816
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4836
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6300
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10589
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18352
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16724
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11588
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2700
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5535
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: CA
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD

2-37468980-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37468980
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 37468980
    reference: chr 2
allele count: 1
allele frequency: 9.574142156862745e-6
allele num: 104448
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000399207
  ensembl transcript: ENST00000431821
  gene symbol: NDUFAF7
  hgvsc: ENST00000431821.1:c.385+46C>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000337431
  ensembl transcript: ENST00000336237
  gene symbol: NDUFAF7
  hgvsc: ENST00000336237.6:c.387+200C>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000416594
  ensembl transcript: ENST00000455230
  gene symbol: NDUFAF7
  hgvsc: ENST00000455230.1:c.*22+200C>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000469831
  gene symbol: NDUFAF7
  hgvsc: ENST00000469831.1:n.726C>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000394436
  ensembl transcript: ENST00000439218
  gene symbol: NDUFAF7
  hgvsc: ENST00000439218.1:c.496+46C>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000483999
  gene symbol: NDUFAF7
  hgvsc: ENST00000483999.1:n.397+46C>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474154
  gene symbol: NDUFAF7
  hgvsc: ENST00000474154.1:n.711C>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000002125
  ensembl transcript: ENST00000002125
  gene symbol: NDUFAF7
  hgvsc: ENST00000002125.4:c.622+46C>G
  variant of: http://identifiers.org/hgnc/28816
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11645
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7121
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3958
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17892
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16419
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1206
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9044
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5579
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

2-37468980-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37468980
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 37468980
    reference: chr 2
allele count: 1
allele frequency: 9.574142156862745e-6
allele num: 104448
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000469831
  gene symbol: NDUFAF7
  hgvsc: ENST00000469831.1:n.726C>T
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000337431
  ensembl transcript: ENST00000336237
  gene symbol: NDUFAF7
  hgvsc: ENST00000336237.6:c.387+200C>T
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000416594
  ensembl transcript: ENST00000455230
  gene symbol: NDUFAF7
  hgvsc: ENST00000455230.1:c.*22+200C>T
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000394436
  ensembl transcript: ENST00000439218
  gene symbol: NDUFAF7
  hgvsc: ENST00000439218.1:c.496+46C>T
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000399207
  ensembl transcript: ENST00000431821
  gene symbol: NDUFAF7
  hgvsc: ENST00000431821.1:c.385+46C>T
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474154
  gene symbol: NDUFAF7
  hgvsc: ENST00000474154.1:n.711C>T
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000483999
  gene symbol: NDUFAF7
  hgvsc: ENST00000483999.1:n.397+46C>T
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000002125
  ensembl transcript: ENST00000002125
  gene symbol: NDUFAF7
  hgvsc: ENST00000002125.4:c.622+46C>T
  variant of: http://identifiers.org/hgnc/28816
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11645
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17892
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16419
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3958
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7121
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9044
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9047
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1206
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5579
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 770
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

2-37468982-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37468982
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 37468982
    reference: chr 2
allele count: 1
allele frequency: 9.679792465249545e-6
allele num: 103308
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000416594
  ensembl transcript: ENST00000455230
  gene symbol: NDUFAF7
  hgvsc: ENST00000455230.1:c.*22+202C>T
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000337431
  ensembl transcript: ENST00000336237
  gene symbol: NDUFAF7
  hgvsc: ENST00000336237.6:c.387+202C>T
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000483999
  gene symbol: NDUFAF7
  hgvsc: ENST00000483999.1:n.397+48C>T
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000002125
  ensembl transcript: ENST00000002125
  gene symbol: NDUFAF7
  hgvsc: ENST00000002125.4:c.622+48C>T
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474154
  gene symbol: NDUFAF7
  hgvsc: ENST00000474154.1:n.713C>T
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000469831
  gene symbol: NDUFAF7
  hgvsc: ENST00000469831.1:n.728C>T
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000399207
  ensembl transcript: ENST00000431821
  gene symbol: NDUFAF7
  hgvsc: ENST00000431821.1:c.385+48C>T
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000394436
  ensembl transcript: ENST00000439218
  gene symbol: NDUFAF7
  hgvsc: ENST00000439218.1:c.496+48C>T
  variant of: http://identifiers.org/hgnc/28816
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3807
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17644
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7531
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11911
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16264
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7455
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1387
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2280
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9062
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/2-37469730-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37469730
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 37469730
    reference: chr 2
allele count: 1
allele frequency: 1.085917817739553e-5
allele num: 92088
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474154
  gene symbol: NDUFAF7
  hgvsc: ENST00000474154.1:n.1461A>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000399207
  ensembl transcript: ENST00000431821
  gene symbol: NDUFAF7
  hgvsc: ENST00000431821.1:c.386-48A>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000337431
  ensembl transcript: ENST00000336237
  gene symbol: NDUFAF7
  hgvsc: ENST00000336237.6:c.387+950A>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000002125
  ensembl transcript: ENST00000002125
  gene symbol: NDUFAF7
  hgvsc: ENST00000002125.4:c.623-48A>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000416594
  ensembl transcript: ENST00000455230
  gene symbol: NDUFAF7
  hgvsc: ENST00000455230.1:c.*23-48A>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000483999
  gene symbol: NDUFAF7
  hgvsc: ENST00000483999.1:n.398-48A>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474257
  gene symbol: NDUFAF7
  hgvsc: ENST00000474257.1:n.649A>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000394436
  ensembl transcript: ENST00000439218
  gene symbol: NDUFAF7
  hgvsc: ENST00000439218.1:c.497-48A>C
  variant of: http://identifiers.org/hgnc/28816
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1827
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17041
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2872
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2300
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9281
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1939
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5654
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12548
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1142
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1093
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2229
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7247
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9393
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum

2-37469750-CATTA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37469750
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 37469746
    reference: chr 2
allele count: 5
allele frequency: 5.21365560676524e-5
allele num: 95902
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000002125
  ensembl transcript: ENST00000002125
  gene symbol: NDUFAF7
  hgvsc: ENST00000002125.4:c.623-24_623-21delAATT
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000416594
  ensembl transcript: ENST00000455230
  gene symbol: NDUFAF7
  hgvsc: ENST00000455230.1:c.*23-24_*23-21delAATT
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000399207
  ensembl transcript: ENST00000431821
  gene symbol: NDUFAF7
  hgvsc: ENST00000431821.1:c.386-24_386-21delAATT
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474154
  gene symbol: NDUFAF7
  hgvsc: ENST00000474154.1:n.1485_1488delAATT
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000394436
  ensembl transcript: ENST00000439218
  gene symbol: NDUFAF7
  hgvsc: ENST00000439218.1:c.497-24_497-21delAATT
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000483999
  gene symbol: NDUFAF7
  hgvsc: ENST00000483999.1:n.398-24_398-21delAATT
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000337431
  ensembl transcript: ENST00000336237
  gene symbol: NDUFAF7
  hgvsc: ENST00000336237.6:c.387+974_387+977delAATT
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474257
  gene symbol: NDUFAF7
  hgvsc: ENST00000474257.1:n.673_676delAATT
  variant of: http://identifiers.org/hgnc/28816
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12016
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19603
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2578
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1956
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1687
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4148
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10552
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4885
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2803
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1169
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6873
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 804
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: CATTA
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

2-37469766-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37469766
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 37469766
    reference: chr 2
allele count: 1
allele frequency: 9.655305590421937e-6
allele num: 103570
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000483999
  gene symbol: NDUFAF7
  hgvsc: ENST00000483999.1:n.398-12C>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000337431
  ensembl transcript: ENST00000336237
  gene symbol: NDUFAF7
  hgvsc: ENST00000336237.6:c.387+986C>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474154
  gene symbol: NDUFAF7
  hgvsc: ENST00000474154.1:n.1497C>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000416594
  ensembl transcript: ENST00000455230
  gene symbol: NDUFAF7
  hgvsc: ENST00000455230.1:c.*23-12C>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000399207
  ensembl transcript: ENST00000431821
  gene symbol: NDUFAF7
  hgvsc: ENST00000431821.1:c.386-12C>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000394436
  ensembl transcript: ENST00000439218
  gene symbol: NDUFAF7
  hgvsc: ENST00000439218.1:c.497-12C>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000002125
  ensembl transcript: ENST00000002125
  gene symbol: NDUFAF7
  hgvsc: ENST00000002125.4:c.623-12C>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474257
  gene symbol: NDUFAF7
  hgvsc: ENST00000474257.1:n.685C>G
  variant of: http://identifiers.org/hgnc/28816
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2818
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5066
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1690
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8554
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5508
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28269
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1933
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1208
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3227
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1487
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

2-37469766-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37469766
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 37469766
    reference: chr 2
allele count: 1
allele frequency: 9.655305590421937e-6
allele num: 103570
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000399207
  ensembl transcript: ENST00000431821
  gene symbol: NDUFAF7
  hgvsc: ENST00000431821.1:c.386-12C>T
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000337431
  ensembl transcript: ENST00000336237
  gene symbol: NDUFAF7
  hgvsc: ENST00000336237.6:c.387+986C>T
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474257
  gene symbol: NDUFAF7
  hgvsc: ENST00000474257.1:n.685C>T
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000394436
  ensembl transcript: ENST00000439218
  gene symbol: NDUFAF7
  hgvsc: ENST00000439218.1:c.497-12C>T
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474154
  gene symbol: NDUFAF7
  hgvsc: ENST00000474154.1:n.1497C>T
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000483999
  gene symbol: NDUFAF7
  hgvsc: ENST00000483999.1:n.398-12C>T
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000002125
  ensembl transcript: ENST00000002125
  gene symbol: NDUFAF7
  hgvsc: ENST00000002125.4:c.623-12C>T
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000416594
  ensembl transcript: ENST00000455230
  gene symbol: NDUFAF7
  hgvsc: ENST00000455230.1:c.*23-12C>T
  variant of: http://identifiers.org/hgnc/28816
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2818
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8554
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28269
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5066
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5508
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1690
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1148
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8654
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3227
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1088
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1933
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29018
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

2-37469777-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37469777
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 37469777
    reference: chr 2
allele count: 1
allele frequency: 9.096201426284383e-6
allele num: 109936
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000399207
  ensembl transcript: ENST00000431821
  gene symbol: NDUFAF7
  hgvsc: ENST00000431821.1:c.386-1G>A
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000416594
  ensembl transcript: ENST00000455230
  gene symbol: NDUFAF7
  hgvsc: ENST00000455230.1:c.*23-1G>A
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000394436
  ensembl transcript: ENST00000439218
  gene symbol: NDUFAF7
  hgvsc: ENST00000439218.1:c.497-1G>A
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474154
  gene symbol: NDUFAF7
  hgvsc: ENST00000474154.1:n.1508G>A
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000002125
  ensembl transcript: ENST00000002125
  gene symbol: NDUFAF7
  hgvsc: ENST00000002125.4:c.623-1G>A
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474257
  gene symbol: NDUFAF7
  hgvsc: ENST00000474257.1:n.696G>A
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000337431
  ensembl transcript: ENST00000336237
  gene symbol: NDUFAF7
  hgvsc: ENST00000336237.6:c.387+997G>A
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000483999
  gene symbol: NDUFAF7
  hgvsc: ENST00000483999.1:n.398-1G>A
  variant of: http://identifiers.org/hgnc/28816
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2901
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6389
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2607
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5538
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33265
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1980
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1109
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 971
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5736
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6874
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 7.5e0
  variant carriers: 0
hgvs: c.623-1G>A
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP

2-37469780-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37469780
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 37469780
    reference: chr 2
allele count: 1
allele frequency: 9.009658353755226e-6
allele num: 110992
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000394436
  ensembl transcript: ENST00000439218
  gene symbol: NDUFAF7
  hgvsc: ENST00000439218.1:c.499T>C
  hgvsp: ENSP00000394436.1:p.Tyr167His
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000399207
  ensembl transcript: ENST00000431821
  gene symbol: NDUFAF7
  hgvsc: ENST00000431821.1:c.388T>C
  hgvsp: ENSP00000399207.1:p.Tyr130His
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000416594
  ensembl transcript: ENST00000455230
  gene symbol: NDUFAF7
  hgvsc: ENST00000455230.1:c.*25T>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474154
  gene symbol: NDUFAF7
  hgvsc: ENST00000474154.1:n.1511T>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474257
  gene symbol: NDUFAF7
  hgvsc: ENST00000474257.1:n.699T>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000002125
  ensembl transcript: ENST00000002125
  gene symbol: NDUFAF7
  hgvsc: ENST00000002125.4:c.625T>C
  hgvsp: ENSP00000002125.4:p.Tyr209His
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000483999
  gene symbol: NDUFAF7
  hgvsc: ENST00000483999.1:n.400T>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000337431
  ensembl transcript: ENST00000336237
  gene symbol: NDUFAF7
  hgvsc: ENST00000336237.6:c.387+1000T>C
  variant of: http://identifiers.org/hgnc/28816
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2382
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2907
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5039
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1977
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6738
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33610
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1164
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3620
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Tyr209His
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ

2-37469792-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37469792
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 37469792
    reference: chr 2
allele count: 38
allele frequency: 3.318081799448151e-4
allele num: 114524
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000399207
  ensembl transcript: ENST00000431821
  gene symbol: NDUFAF7
  hgvsc: ENST00000431821.1:c.400C>G
  hgvsp: ENSP00000399207.1:p.Leu134Val
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000002125
  ensembl transcript: ENST00000002125
  gene symbol: NDUFAF7
  hgvsc: ENST00000002125.4:c.637C>G
  hgvsp: ENSP00000002125.4:p.Leu213Val
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000394436
  ensembl transcript: ENST00000439218
  gene symbol: NDUFAF7
  hgvsc: ENST00000439218.1:c.511C>G
  hgvsp: ENSP00000394436.1:p.Leu171Val
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474154
  gene symbol: NDUFAF7
  hgvsc: ENST00000474154.1:n.1523C>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000483999
  gene symbol: NDUFAF7
  hgvsc: ENST00000483999.1:n.412C>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474257
  gene symbol: NDUFAF7
  hgvsc: ENST00000474257.1:n.711C>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000337431
  ensembl transcript: ENST00000336237
  gene symbol: NDUFAF7
  hgvsc: ENST00000336237.6:c.387+1012C>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000416594
  ensembl transcript: ENST00000455230
  gene symbol: NDUFAF7
  hgvsc: ENST00000455230.1:c.*37C>G
  variant of: http://identifiers.org/hgnc/28816
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3326
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1979
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3011
  bin: 3.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 35603
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7446
  bin: 2.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1698
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38149
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3600
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3784
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu213Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
reference allele: C
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

2-37469799-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37469799
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 37469799
    reference: chr 2
allele count: 3
allele frequency: 2.586117720078618e-5
allele num: 116004
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000416594
  ensembl transcript: ENST00000455230
  gene symbol: NDUFAF7
  hgvsc: ENST00000455230.1:c.*44A>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000483999
  gene symbol: NDUFAF7
  hgvsc: ENST00000483999.1:n.419A>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000002125
  ensembl transcript: ENST00000002125
  gene symbol: NDUFAF7
  hgvsc: ENST00000002125.4:c.644A>G
  hgvsp: ENSP00000002125.4:p.His215Arg
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474154
  gene symbol: NDUFAF7
  hgvsc: ENST00000474154.1:n.1530A>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000394436
  ensembl transcript: ENST00000439218
  gene symbol: NDUFAF7
  hgvsc: ENST00000439218.1:c.518A>G
  hgvsp: ENSP00000394436.1:p.His173Arg
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474257
  gene symbol: NDUFAF7
  hgvsc: ENST00000474257.1:n.718A>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000399207
  ensembl transcript: ENST00000431821
  gene symbol: NDUFAF7
  hgvsc: ENST00000431821.1:c.407A>G
  hgvsp: ENSP00000399207.1:p.His136Arg
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000337431
  ensembl transcript: ENST00000336237
  gene symbol: NDUFAF7
  hgvsc: ENST00000336237.6:c.387+1019A>G
  variant of: http://identifiers.org/hgnc/28816
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3032
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1974
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7865
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2621
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36214
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1601
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
hgvs: p.His215Arg
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP

2-37469803-A-AT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37469803
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 37469804
    reference: chr 2
allele count: 1
allele frequency: 8.592689339909605e-6
allele num: 116378
alternate allele: AT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474154
  gene symbol: NDUFAF7
  hgvsc: ENST00000474154.1:n.1540dupT
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000002125
  ensembl transcript: ENST00000002125
  gene symbol: NDUFAF7
  hgvsc: ENST00000002125.4:c.654dupT
  hgvsp: ENSP00000002125.4:p.Asp219Ter
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000399207
  ensembl transcript: ENST00000431821
  gene symbol: NDUFAF7
  hgvsc: ENST00000431821.1:c.417dupT
  hgvsp: ENSP00000399207.1:p.Asp140Ter
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000337431
  ensembl transcript: ENST00000336237
  gene symbol: NDUFAF7
  hgvsc: ENST00000336237.6:c.387+1029dupT
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000394436
  ensembl transcript: ENST00000439218
  gene symbol: NDUFAF7
  hgvsc: ENST00000439218.1:c.528dupT
  hgvsp: ENSP00000394436.1:p.Asp177Ter
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000483999
  gene symbol: NDUFAF7
  hgvsc: ENST00000483999.1:n.429dupT
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000416594
  ensembl transcript: ENST00000455230
  gene symbol: NDUFAF7
  hgvsc: ENST00000455230.1:c.*54dupT
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474257
  gene symbol: NDUFAF7
  hgvsc: ENST00000474257.1:n.728dupT
  variant of: http://identifiers.org/hgnc/28816
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36202
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2413
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1979
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3070
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8047
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2746
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 976
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asp219Ter
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff

2-37469833-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37469833
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 37469833
    reference: chr 2
allele count: 213
allele frequency: 1.81366121149163e-3
allele num: 117442
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000394436
  ensembl transcript: ENST00000439218
  gene symbol: NDUFAF7
  hgvsc: ENST00000439218.1:c.552T>C
  hgvsp: ENST00000439218.1:c.552T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000416594
  ensembl transcript: ENST00000455230
  gene symbol: NDUFAF7
  hgvsc: ENST00000455230.1:c.*78T>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000002125
  ensembl transcript: ENST00000002125
  gene symbol: NDUFAF7
  hgvsc: ENST00000002125.4:c.678T>C
  hgvsp: ENST00000002125.4:c.678T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000483999
  gene symbol: NDUFAF7
  hgvsc: ENST00000483999.1:n.453T>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474154
  gene symbol: NDUFAF7
  hgvsc: ENST00000474154.1:n.1564T>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474257
  gene symbol: NDUFAF7
  hgvsc: ENST00000474257.1:n.752T>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000399207
  ensembl transcript: ENST00000431821
  gene symbol: NDUFAF7
  hgvsc: ENST00000431821.1:c.441T>C
  hgvsp: ENST00000431821.1:c.441T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000337431
  ensembl transcript: ENST00000336237
  gene symbol: NDUFAF7
  hgvsc: ENST00000336237.6:c.387+1053T>C
  variant of: http://identifiers.org/hgnc/28816
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 34866
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 5.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 5.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8838
  bin: 2.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 4.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3105
  bin: 3.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 1904
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2005
  bin: 3.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 4.75e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 2816
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1217
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Phe226Phe
num of homozygotes: 2
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: MQ
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-37469843-AGG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37469843
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 37469841
    reference: chr 2
allele count: 84
allele frequency: 7.173111080748736e-4
allele num: 117104
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000002125
  ensembl transcript: ENST00000002125
  gene symbol: NDUFAF7
  hgvsc: ENST00000002125.4:c.681+12_681+13delGG
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000416594
  ensembl transcript: ENST00000455230
  gene symbol: NDUFAF7
  hgvsc: ENST00000455230.1:c.*81+12_*81+13delGG
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474257
  gene symbol: NDUFAF7
  hgvsc: ENST00000474257.1:n.755+12_755+13delGG
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000337431
  ensembl transcript: ENST00000336237
  gene symbol: NDUFAF7
  hgvsc: ENST00000336237.6:c.387+1068_387+1069delGG
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000483999
  gene symbol: NDUFAF7
  hgvsc: ENST00000483999.1:n.456+12_456+13delGG
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000399207
  ensembl transcript: ENST00000431821
  gene symbol: NDUFAF7
  hgvsc: ENST00000431821.1:c.444+12_444+13delGG
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000394436
  ensembl transcript: ENST00000439218
  gene symbol: NDUFAF7
  hgvsc: ENST00000439218.1:c.555+12_555+13delGG
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474154
  gene symbol: NDUFAF7
  hgvsc: ENST00000474154.1:n.1567+12_1567+13delGG
  variant of: http://identifiers.org/hgnc/28816
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3175
  bin: 1.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1999
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9104
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 32499
  bin: 2.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 1.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2000
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3223
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3683
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36293
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
hgvs: c.681+12_681+13delGG
num of homozygotes: 1
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: AGG
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum

2-37469845-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37469845
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 37469845
    reference: chr 2
allele count: 1
allele frequency: 8.554905382746468e-6
allele num: 116892
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000002125
  ensembl transcript: ENST00000002125
  gene symbol: NDUFAF7
  hgvsc: ENST00000002125.4:c.681+9G>A
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000483999
  gene symbol: NDUFAF7
  hgvsc: ENST00000483999.1:n.456+9G>A
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000337431
  ensembl transcript: ENST00000336237
  gene symbol: NDUFAF7
  hgvsc: ENST00000336237.6:c.387+1065G>A
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474154
  gene symbol: NDUFAF7
  hgvsc: ENST00000474154.1:n.1567+9G>A
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000394436
  ensembl transcript: ENST00000439218
  gene symbol: NDUFAF7
  hgvsc: ENST00000439218.1:c.555+9G>A
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000416594
  ensembl transcript: ENST00000455230
  gene symbol: NDUFAF7
  hgvsc: ENST00000455230.1:c.*81+9G>A
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000399207
  ensembl transcript: ENST00000431821
  gene symbol: NDUFAF7
  hgvsc: ENST00000431821.1:c.444+9G>A
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474257
  gene symbol: NDUFAF7
  hgvsc: ENST00000474257.1:n.755+9G>A
  variant of: http://identifiers.org/hgnc/28816
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3307
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2003
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32239
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9129
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3228
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1141
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1563
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3764
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 954
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36419
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1218
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

2-37469849-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37469849
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 37469848
    reference: chr 2
allele count: 6
allele frequency: 5.135227661759671e-5
allele num: 116840
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000416594
  ensembl transcript: ENST00000455230
  gene symbol: NDUFAF7
  hgvsc: ENST00000455230.1:c.*81+19delA
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000002125
  ensembl transcript: ENST00000002125
  gene symbol: NDUFAF7
  hgvsc: ENST00000002125.4:c.681+19delA
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000394436
  ensembl transcript: ENST00000439218
  gene symbol: NDUFAF7
  hgvsc: ENST00000439218.1:c.555+19delA
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000483999
  gene symbol: NDUFAF7
  hgvsc: ENST00000483999.1:n.456+19delA
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000337431
  ensembl transcript: ENST00000336237
  gene symbol: NDUFAF7
  hgvsc: ENST00000336237.6:c.387+1075delA
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474257
  gene symbol: NDUFAF7
  hgvsc: ENST00000474257.1:n.755+19delA
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000399207
  ensembl transcript: ENST00000431821
  gene symbol: NDUFAF7
  hgvsc: ENST00000431821.1:c.444+19delA
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474154
  gene symbol: NDUFAF7
  hgvsc: ENST00000474154.1:n.1567+19delA
  variant of: http://identifiers.org/hgnc/28816
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2016
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2045
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31082
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1721
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3242
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4035
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9232
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 965
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1150
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3690
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 773
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1210
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: GA
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

2-37469850-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37469850
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 37469850
    reference: chr 2
allele count: 2
allele frequency: 1.711830460311211e-5
allele num: 116834
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474154
  gene symbol: NDUFAF7
  hgvsc: ENST00000474154.1:n.1567+14A>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000002125
  ensembl transcript: ENST00000002125
  gene symbol: NDUFAF7
  hgvsc: ENST00000002125.4:c.681+14A>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000483999
  gene symbol: NDUFAF7
  hgvsc: ENST00000483999.1:n.456+14A>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000337431
  ensembl transcript: ENST00000336237
  gene symbol: NDUFAF7
  hgvsc: ENST00000336237.6:c.387+1070A>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474257
  gene symbol: NDUFAF7
  hgvsc: ENST00000474257.1:n.755+14A>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000394436
  ensembl transcript: ENST00000439218
  gene symbol: NDUFAF7
  hgvsc: ENST00000439218.1:c.555+14A>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000399207
  ensembl transcript: ENST00000431821
  gene symbol: NDUFAF7
  hgvsc: ENST00000431821.1:c.444+14A>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000416594
  ensembl transcript: ENST00000455230
  gene symbol: NDUFAF7
  hgvsc: ENST00000455230.1:c.*81+14A>G
  variant of: http://identifiers.org/hgnc/28816
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2029
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2060
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30803
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9203
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4220
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3178
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4279
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1212
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 961
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1507
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3679
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: A
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum

2-37469850-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37469850
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 37469850
    reference: chr 2
allele count: 187
allele frequency: 1.600561480390982e-3
allele num: 116834
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474257
  gene symbol: NDUFAF7
  hgvsc: ENST00000474257.1:n.755+14A>T
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000002125
  ensembl transcript: ENST00000002125
  gene symbol: NDUFAF7
  hgvsc: ENST00000002125.4:c.681+14A>T
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000394436
  ensembl transcript: ENST00000439218
  gene symbol: NDUFAF7
  hgvsc: ENST00000439218.1:c.555+14A>T
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000337431
  ensembl transcript: ENST00000336237
  gene symbol: NDUFAF7
  hgvsc: ENST00000336237.6:c.387+1070A>T
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474154
  gene symbol: NDUFAF7
  hgvsc: ENST00000474154.1:n.1567+14A>T
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000483999
  gene symbol: NDUFAF7
  hgvsc: ENST00000483999.1:n.456+14A>T
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000416594
  ensembl transcript: ENST00000455230
  gene symbol: NDUFAF7
  hgvsc: ENST00000455230.1:c.*81+14A>T
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000399207
  ensembl transcript: ENST00000431821
  gene symbol: NDUFAF7
  hgvsc: ENST00000431821.1:c.444+14A>T
  variant of: http://identifiers.org/hgnc/28816
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2029
  bin: 3.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 3178
  bin: 3.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 2060
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 9.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 5.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 4.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 30803
  bin: 2.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 1.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9203
  bin: 2.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 4220
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 4.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 5.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 6.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1483
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1212
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1140
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

2-37469853-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37469853
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 37469853
    reference: chr 2
allele count: 1
allele frequency: 8.548323673727582e-6
allele num: 116982
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000483999
  gene symbol: NDUFAF7
  hgvsc: ENST00000483999.1:n.456+17A>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474257
  gene symbol: NDUFAF7
  hgvsc: ENST00000474257.1:n.755+17A>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000416594
  ensembl transcript: ENST00000455230
  gene symbol: NDUFAF7
  hgvsc: ENST00000455230.1:c.*81+17A>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474154
  gene symbol: NDUFAF7
  hgvsc: ENST00000474154.1:n.1567+17A>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000399207
  ensembl transcript: ENST00000431821
  gene symbol: NDUFAF7
  hgvsc: ENST00000431821.1:c.444+17A>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000394436
  ensembl transcript: ENST00000439218
  gene symbol: NDUFAF7
  hgvsc: ENST00000439218.1:c.555+17A>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000337431
  ensembl transcript: ENST00000336237
  gene symbol: NDUFAF7
  hgvsc: ENST00000336237.6:c.387+1073A>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000002125
  ensembl transcript: ENST00000002125
  gene symbol: NDUFAF7
  hgvsc: ENST00000002125.4:c.681+17A>G
  variant of: http://identifiers.org/hgnc/28816
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1243
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4985
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2222
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9096
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29912
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3078
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1216
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 967
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1396
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34472
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1797
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: QD

2-37469865-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37469865
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 37469865
    reference: chr 2
allele count: 2
allele frequency: 1.715236445343991e-5
allele num: 116602
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000337431
  ensembl transcript: ENST00000336237
  gene symbol: NDUFAF7
  hgvsc: ENST00000336237.6:c.387+1085A>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474257
  gene symbol: NDUFAF7
  hgvsc: ENST00000474257.1:n.755+29A>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000399207
  ensembl transcript: ENST00000431821
  gene symbol: NDUFAF7
  hgvsc: ENST00000431821.1:c.444+29A>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000002125
  ensembl transcript: ENST00000002125
  gene symbol: NDUFAF7
  hgvsc: ENST00000002125.4:c.681+29A>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000416594
  ensembl transcript: ENST00000455230
  gene symbol: NDUFAF7
  hgvsc: ENST00000455230.1:c.*81+29A>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000394436
  ensembl transcript: ENST00000439218
  gene symbol: NDUFAF7
  hgvsc: ENST00000439218.1:c.555+29A>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474154
  gene symbol: NDUFAF7
  hgvsc: ENST00000474154.1:n.1567+29A>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000483999
  gene symbol: NDUFAF7
  hgvsc: ENST00000483999.1:n.456+29A>G
  variant of: http://identifiers.org/hgnc/28816
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8039
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2997
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23967
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6362
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1704
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7796
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2185
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3297
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2485
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 964
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6126
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 701
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2565
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD

2-37469868-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37469868
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 37469868
    reference: chr 2
allele count: 1
allele frequency: 8.585017427585377e-6
allele num: 116482
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000416594
  ensembl transcript: ENST00000455230
  gene symbol: NDUFAF7
  hgvsc: ENST00000455230.1:c.*81+32A>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000002125
  ensembl transcript: ENST00000002125
  gene symbol: NDUFAF7
  hgvsc: ENST00000002125.4:c.681+32A>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000337431
  ensembl transcript: ENST00000336237
  gene symbol: NDUFAF7
  hgvsc: ENST00000336237.6:c.387+1088A>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474154
  gene symbol: NDUFAF7
  hgvsc: ENST00000474154.1:n.1567+32A>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000394436
  ensembl transcript: ENST00000439218
  gene symbol: NDUFAF7
  hgvsc: ENST00000439218.1:c.555+32A>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000399207
  ensembl transcript: ENST00000431821
  gene symbol: NDUFAF7
  hgvsc: ENST00000431821.1:c.444+32A>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000483999
  gene symbol: NDUFAF7
  hgvsc: ENST00000483999.1:n.456+32A>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474257
  gene symbol: NDUFAF7
  hgvsc: ENST00000474257.1:n.755+32A>G
  variant of: http://identifiers.org/hgnc/28816
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1703
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2221
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2951
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1986
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22847
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7674
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8064
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7585
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6870
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1198
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 963
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff

2-37469870-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37469870
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 37469870
    reference: chr 2
allele count: 1
allele frequency: 8.591803419537761e-6
allele num: 116390
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474257
  gene symbol: NDUFAF7
  hgvsc: ENST00000474257.1:n.755+34T>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000416594
  ensembl transcript: ENST00000455230
  gene symbol: NDUFAF7
  hgvsc: ENST00000455230.1:c.*81+34T>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000399207
  ensembl transcript: ENST00000431821
  gene symbol: NDUFAF7
  hgvsc: ENST00000431821.1:c.444+34T>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474154
  gene symbol: NDUFAF7
  hgvsc: ENST00000474154.1:n.1567+34T>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000394436
  ensembl transcript: ENST00000439218
  gene symbol: NDUFAF7
  hgvsc: ENST00000439218.1:c.555+34T>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000337431
  ensembl transcript: ENST00000336237
  gene symbol: NDUFAF7
  hgvsc: ENST00000336237.6:c.387+1090T>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000483999
  gene symbol: NDUFAF7
  hgvsc: ENST00000483999.1:n.456+34T>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000002125
  ensembl transcript: ENST00000002125
  gene symbol: NDUFAF7
  hgvsc: ENST00000002125.4:c.681+34T>C
  variant of: http://identifiers.org/hgnc/28816
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8147
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1704
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2941
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8183
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2233
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7432
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22406
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1983
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6347
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25399
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3230
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4442
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

2-37469870-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37469870
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 37469870
    reference: chr 2
allele count: 12
allele frequency: 1.031016410344531e-4
allele num: 116390
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474257
  gene symbol: NDUFAF7
  hgvsc: ENST00000474257.1:n.755+34T>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000416594
  ensembl transcript: ENST00000455230
  gene symbol: NDUFAF7
  hgvsc: ENST00000455230.1:c.*81+34T>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000399207
  ensembl transcript: ENST00000431821
  gene symbol: NDUFAF7
  hgvsc: ENST00000431821.1:c.444+34T>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000394436
  ensembl transcript: ENST00000439218
  gene symbol: NDUFAF7
  hgvsc: ENST00000439218.1:c.555+34T>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000483999
  gene symbol: NDUFAF7
  hgvsc: ENST00000483999.1:n.456+34T>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000002125
  ensembl transcript: ENST00000002125
  gene symbol: NDUFAF7
  hgvsc: ENST00000002125.4:c.681+34T>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000337431
  ensembl transcript: ENST00000336237
  gene symbol: NDUFAF7
  hgvsc: ENST00000336237.6:c.387+1090T>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474154
  gene symbol: NDUFAF7
  hgvsc: ENST00000474154.1:n.1567+34T>G
  variant of: http://identifiers.org/hgnc/28816
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2233
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8147
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1983
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7432
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2941
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1704
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22406
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8183
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 884
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1025
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4442
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6877
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: East Asian
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/2-37469880-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37469880
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 37469880
    reference: chr 2
allele count: 1
allele frequency: 8.646330497336931e-6
allele num: 115656
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000416594
  ensembl transcript: ENST00000455230
  gene symbol: NDUFAF7
  hgvsc: ENST00000455230.1:c.*81+44A>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000399207
  ensembl transcript: ENST00000431821
  gene symbol: NDUFAF7
  hgvsc: ENST00000431821.1:c.444+44A>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000394436
  ensembl transcript: ENST00000439218
  gene symbol: NDUFAF7
  hgvsc: ENST00000439218.1:c.555+44A>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000337431
  ensembl transcript: ENST00000336237
  gene symbol: NDUFAF7
  hgvsc: ENST00000336237.6:c.387+1100A>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474257
  gene symbol: NDUFAF7
  hgvsc: ENST00000474257.1:n.755+44A>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474154
  gene symbol: NDUFAF7
  hgvsc: ENST00000474154.1:n.1567+44A>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000483999
  gene symbol: NDUFAF7
  hgvsc: ENST00000483999.1:n.456+44A>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000002125
  ensembl transcript: ENST00000002125
  gene symbol: NDUFAF7
  hgvsc: ENST00000002125.4:c.681+44A>C
  variant of: http://identifiers.org/hgnc/28816
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19128
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12527
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2485
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6148
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8238
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2810
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1981
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5854
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 845
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17479
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2659
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2304
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1057
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS

2-37469881-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37469881
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 37469881
    reference: chr 2
allele count: 1
allele frequency: 8.654262224145391e-6
allele num: 115550
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000337431
  ensembl transcript: ENST00000336237
  gene symbol: NDUFAF7
  hgvsc: ENST00000336237.6:c.387+1101G>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000002125
  ensembl transcript: ENST00000002125
  gene symbol: NDUFAF7
  hgvsc: ENST00000002125.4:c.681+45G>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000399207
  ensembl transcript: ENST00000431821
  gene symbol: NDUFAF7
  hgvsc: ENST00000431821.1:c.444+45G>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000394436
  ensembl transcript: ENST00000439218
  gene symbol: NDUFAF7
  hgvsc: ENST00000439218.1:c.555+45G>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000483999
  gene symbol: NDUFAF7
  hgvsc: ENST00000483999.1:n.456+45G>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474154
  gene symbol: NDUFAF7
  hgvsc: ENST00000474154.1:n.1567+45G>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000416594
  ensembl transcript: ENST00000455230
  gene symbol: NDUFAF7
  hgvsc: ENST00000455230.1:c.*81+45G>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474257
  gene symbol: NDUFAF7
  hgvsc: ENST00000474257.1:n.755+45G>C
  variant of: http://identifiers.org/hgnc/28816
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2808
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12497
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19230
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1703
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1981
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2505
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6046
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8247
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2476
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1457
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6371
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5665
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1047
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-37469887-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37469887
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 37469887
    reference: chr 2
allele count: 1
allele frequency: 8.719003940989781e-6
allele num: 114692
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000399207
  ensembl transcript: ENST00000431821
  gene symbol: NDUFAF7
  hgvsc: ENST00000431821.1:c.444+51G>A
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000416594
  ensembl transcript: ENST00000455230
  gene symbol: NDUFAF7
  hgvsc: ENST00000455230.1:c.*81+51G>A
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474257
  gene symbol: NDUFAF7
  hgvsc: ENST00000474257.1:n.755+51G>A
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000002125
  ensembl transcript: ENST00000002125
  gene symbol: NDUFAF7
  hgvsc: ENST00000002125.4:c.681+51G>A
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000483999
  gene symbol: NDUFAF7
  hgvsc: ENST00000483999.1:n.456+51G>A
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474154
  gene symbol: NDUFAF7
  hgvsc: ENST00000474154.1:n.1567+51G>A
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000337431
  ensembl transcript: ENST00000336237
  gene symbol: NDUFAF7
  hgvsc: ENST00000336237.6:c.387+1107G>A
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000394436
  ensembl transcript: ENST00000439218
  gene symbol: NDUFAF7
  hgvsc: ENST00000439218.1:c.555+51G>A
  variant of: http://identifiers.org/hgnc/28816
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18925
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1978
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6379
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2692
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8195
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12374
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2769
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12187
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1444
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3198
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1036
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3077
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6862
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5827
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

2-37469888-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37469888
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 37469887
    reference: chr 2
allele count: 3
allele frequency: 2.643218382702779e-5
allele num: 113498
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000416594
  ensembl transcript: ENST00000455230
  gene symbol: NDUFAF7
  hgvsc: ENST00000455230.1:c.*81+53delG
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000394436
  ensembl transcript: ENST00000439218
  gene symbol: NDUFAF7
  hgvsc: ENST00000439218.1:c.555+53delG
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000337431
  ensembl transcript: ENST00000336237
  gene symbol: NDUFAF7
  hgvsc: ENST00000336237.6:c.387+1109delG
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000483999
  gene symbol: NDUFAF7
  hgvsc: ENST00000483999.1:n.456+53delG
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000002125
  ensembl transcript: ENST00000002125
  gene symbol: NDUFAF7
  hgvsc: ENST00000002125.4:c.681+53delG
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000399207
  ensembl transcript: ENST00000431821
  gene symbol: NDUFAF7
  hgvsc: ENST00000431821.1:c.444+53delG
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474257
  gene symbol: NDUFAF7
  hgvsc: ENST00000474257.1:n.755+53delG
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474154
  gene symbol: NDUFAF7
  hgvsc: ENST00000474154.1:n.1567+53delG
  variant of: http://identifiers.org/hgnc/28816
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3064
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2685
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17330
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1697
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12347
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8230
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7655
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2002
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 991
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1192
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1927
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4529
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3115
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 954
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: TG
site quality: DP
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-37470958-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37470958
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 37470957
    reference: chr 2
allele count: 1
allele frequency: 1.099166831541691e-5
allele num: 90978
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474154
  gene symbol: NDUFAF7
  hgvsc: ENST00000474154.1:n.1568-95delA
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000394436
  ensembl transcript: ENST00000439218
  gene symbol: NDUFAF7
  hgvsc: ENST00000439218.1:c.556-47delA
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000002125
  ensembl transcript: ENST00000002125
  gene symbol: NDUFAF7
  hgvsc: ENST00000002125.4:c.682-47delA
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474257
  gene symbol: NDUFAF7
  hgvsc: ENST00000474257.1:n.756-47delA
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000483999
  gene symbol: NDUFAF7
  hgvsc: ENST00000483999.1:n.457-47delA
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000416594
  ensembl transcript: ENST00000455230
  gene symbol: NDUFAF7
  hgvsc: ENST00000455230.1:c.*82-47delA
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000399207
  ensembl transcript: ENST00000431821
  gene symbol: NDUFAF7
  hgvsc: ENST00000431821.1:c.445-47delA
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000337431
  ensembl transcript: ENST00000336237
  gene symbol: NDUFAF7
  hgvsc: ENST00000336237.6:c.388-47delA
  variant of: http://identifiers.org/hgnc/28816
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13157
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18345
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5039
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2550
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9382
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4866
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7918
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10289
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6426
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1284
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: GA
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

2-37470960-GAACA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37470960
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 37470956
    reference: chr 2
allele count: 1
allele frequency: 1.097164925831651e-5
allele num: 91144
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000337431
  ensembl transcript: ENST00000336237
  gene symbol: NDUFAF7
  hgvsc: ENST00000336237.6:c.388-42_388-39delAAAC
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000416594
  ensembl transcript: ENST00000455230
  gene symbol: NDUFAF7
  hgvsc: ENST00000455230.1:c.*82-42_*82-39delAAAC
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000399207
  ensembl transcript: ENST00000431821
  gene symbol: NDUFAF7
  hgvsc: ENST00000431821.1:c.445-42_445-39delAAAC
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000483999
  gene symbol: NDUFAF7
  hgvsc: ENST00000483999.1:n.457-42_457-39delAAAC
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000002125
  ensembl transcript: ENST00000002125
  gene symbol: NDUFAF7
  hgvsc: ENST00000002125.4:c.682-42_682-39delAAAC
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474154
  gene symbol: NDUFAF7
  hgvsc: ENST00000474154.1:n.1568-90_1568-87delAAAC
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000394436
  ensembl transcript: ENST00000439218
  gene symbol: NDUFAF7
  hgvsc: ENST00000439218.1:c.556-42_556-39delAAAC
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474257
  gene symbol: NDUFAF7
  hgvsc: ENST00000474257.1:n.756-42_756-39delAAAC
  variant of: http://identifiers.org/hgnc/28816
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8895
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2595
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13127
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18332
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5570
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2629
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2333
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6584
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10640
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1233
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4865
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: GAACA
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

2-37470962-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37470962
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 37470962
    reference: chr 2
allele count: 2
allele frequency: 2.180739706908583e-5
allele num: 91712
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000337431
  ensembl transcript: ENST00000336237
  gene symbol: NDUFAF7
  hgvsc: ENST00000336237.6:c.388-44A>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474154
  gene symbol: NDUFAF7
  hgvsc: ENST00000474154.1:n.1568-92A>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000416594
  ensembl transcript: ENST00000455230
  gene symbol: NDUFAF7
  hgvsc: ENST00000455230.1:c.*82-44A>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000002125
  ensembl transcript: ENST00000002125
  gene symbol: NDUFAF7
  hgvsc: ENST00000002125.4:c.682-44A>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000394436
  ensembl transcript: ENST00000439218
  gene symbol: NDUFAF7
  hgvsc: ENST00000439218.1:c.556-44A>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474257
  gene symbol: NDUFAF7
  hgvsc: ENST00000474257.1:n.756-44A>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000483999
  gene symbol: NDUFAF7
  hgvsc: ENST00000483999.1:n.457-44A>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000399207
  ensembl transcript: ENST00000431821
  gene symbol: NDUFAF7
  hgvsc: ENST00000431821.1:c.445-44A>G
  variant of: http://identifiers.org/hgnc/28816
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6303
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13098
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8205
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2655
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18331
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7945
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3265
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1175
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2598
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11202
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

2-37470965-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37470965
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 37470965
    reference: chr 2
allele count: 1
allele frequency: 1.085587737200921e-5
allele num: 92116
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000002125
  ensembl transcript: ENST00000002125
  gene symbol: NDUFAF7
  hgvsc: ENST00000002125.4:c.682-41A>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000483999
  gene symbol: NDUFAF7
  hgvsc: ENST00000483999.1:n.457-41A>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474257
  gene symbol: NDUFAF7
  hgvsc: ENST00000474257.1:n.756-41A>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474154
  gene symbol: NDUFAF7
  hgvsc: ENST00000474154.1:n.1568-89A>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000337431
  ensembl transcript: ENST00000336237
  gene symbol: NDUFAF7
  hgvsc: ENST00000336237.6:c.388-41A>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000399207
  ensembl transcript: ENST00000431821
  gene symbol: NDUFAF7
  hgvsc: ENST00000431821.1:c.445-41A>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000416594
  ensembl transcript: ENST00000455230
  gene symbol: NDUFAF7
  hgvsc: ENST00000455230.1:c.*82-41A>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000394436
  ensembl transcript: ENST00000439218
  gene symbol: NDUFAF7
  hgvsc: ENST00000439218.1:c.556-41A>G
  variant of: http://identifiers.org/hgnc/28816
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18101
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7817
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13134
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6948
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2791
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1336
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9183
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1158
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11889
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 866
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4845
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-37470966-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37470966
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 37470966
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 92178
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000394436
  ensembl transcript: ENST00000439218
  gene symbol: NDUFAF7
  hgvsc: ENST00000439218.1:c.556-40A>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000416594
  ensembl transcript: ENST00000455230
  gene symbol: NDUFAF7
  hgvsc: ENST00000455230.1:c.*82-40A>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474257
  gene symbol: NDUFAF7
  hgvsc: ENST00000474257.1:n.756-40A>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000483999
  gene symbol: NDUFAF7
  hgvsc: ENST00000483999.1:n.457-40A>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000002125
  ensembl transcript: ENST00000002125
  gene symbol: NDUFAF7
  hgvsc: ENST00000002125.4:c.682-40A>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474154
  gene symbol: NDUFAF7
  hgvsc: ENST00000474154.1:n.1568-88A>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000337431
  ensembl transcript: ENST00000336237
  gene symbol: NDUFAF7
  hgvsc: ENST00000336237.6:c.388-40A>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000399207
  ensembl transcript: ENST00000431821
  gene symbol: NDUFAF7
  hgvsc: ENST00000431821.1:c.445-40A>G
  variant of: http://identifiers.org/hgnc/28816
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 17923
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8520
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2836
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13167
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6420
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2257
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7793
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1044
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1069
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12213
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQ

2-37470971-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37470971
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 37470971
    reference: chr 2
allele count: 2
allele frequency: 2.153269740100343e-5
allele num: 92882
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474154
  gene symbol: NDUFAF7
  hgvsc: ENST00000474154.1:n.1568-83C>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000337431
  ensembl transcript: ENST00000336237
  gene symbol: NDUFAF7
  hgvsc: ENST00000336237.6:c.388-35C>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000394436
  ensembl transcript: ENST00000439218
  gene symbol: NDUFAF7
  hgvsc: ENST00000439218.1:c.556-35C>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000483999
  gene symbol: NDUFAF7
  hgvsc: ENST00000483999.1:n.457-35C>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000002125
  ensembl transcript: ENST00000002125
  gene symbol: NDUFAF7
  hgvsc: ENST00000002125.4:c.682-35C>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000399207
  ensembl transcript: ENST00000431821
  gene symbol: NDUFAF7
  hgvsc: ENST00000431821.1:c.445-35C>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474257
  gene symbol: NDUFAF7
  hgvsc: ENST00000474257.1:n.756-35C>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000416594
  ensembl transcript: ENST00000455230
  gene symbol: NDUFAF7
  hgvsc: ENST00000455230.1:c.*82-35C>G
  variant of: http://identifiers.org/hgnc/28816
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12525
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4252
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13059
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3172
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16194
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1337
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4916
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7189
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/2-37470976-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37470976
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 37470976
    reference: chr 2
allele count: 1
allele frequency: 1.058111482625809e-5
allele num: 94508
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474154
  gene symbol: NDUFAF7
  hgvsc: ENST00000474154.1:n.1568-78A>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000399207
  ensembl transcript: ENST00000431821
  gene symbol: NDUFAF7
  hgvsc: ENST00000431821.1:c.445-30A>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000416594
  ensembl transcript: ENST00000455230
  gene symbol: NDUFAF7
  hgvsc: ENST00000455230.1:c.*82-30A>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000483999
  gene symbol: NDUFAF7
  hgvsc: ENST00000483999.1:n.457-30A>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000394436
  ensembl transcript: ENST00000439218
  gene symbol: NDUFAF7
  hgvsc: ENST00000439218.1:c.556-30A>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474257
  gene symbol: NDUFAF7
  hgvsc: ENST00000474257.1:n.756-30A>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000002125
  ensembl transcript: ENST00000002125
  gene symbol: NDUFAF7
  hgvsc: ENST00000002125.4:c.682-30A>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000337431
  ensembl transcript: ENST00000336237
  gene symbol: NDUFAF7
  hgvsc: ENST00000336237.6:c.388-30A>C
  variant of: http://identifiers.org/hgnc/28816
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13208
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3450
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2631
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12742
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17489
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 973
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5937
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 755
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

2-37470981-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37470981
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 37470981
    reference: chr 2
allele count: 1
allele frequency: 1.03431869427608e-5
allele num: 96682
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000002125
  ensembl transcript: ENST00000002125
  gene symbol: NDUFAF7
  hgvsc: ENST00000002125.4:c.682-25T>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474257
  gene symbol: NDUFAF7
  hgvsc: ENST00000474257.1:n.756-25T>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000416594
  ensembl transcript: ENST00000455230
  gene symbol: NDUFAF7
  hgvsc: ENST00000455230.1:c.*82-25T>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000337431
  ensembl transcript: ENST00000336237
  gene symbol: NDUFAF7
  hgvsc: ENST00000336237.6:c.388-25T>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000483999
  gene symbol: NDUFAF7
  hgvsc: ENST00000483999.1:n.457-25T>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000399207
  ensembl transcript: ENST00000431821
  gene symbol: NDUFAF7
  hgvsc: ENST00000431821.1:c.445-25T>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000394436
  ensembl transcript: ENST00000439218
  gene symbol: NDUFAF7
  hgvsc: ENST00000439218.1:c.556-25T>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474154
  gene symbol: NDUFAF7
  hgvsc: ENST00000474154.1:n.1568-73T>C
  variant of: http://identifiers.org/hgnc/28816
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1867
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11860
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21597
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10448
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3891
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12143
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3444
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum

2-37470994-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37470994
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 37470994
    reference: chr 2
allele count: 6
allele frequency: 5.596597268860533e-5
allele num: 107208
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474154
  gene symbol: NDUFAF7
  hgvsc: ENST00000474154.1:n.1568-60T>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000002125
  ensembl transcript: ENST00000002125
  gene symbol: NDUFAF7
  hgvsc: ENST00000002125.4:c.682-12T>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000399207
  ensembl transcript: ENST00000431821
  gene symbol: NDUFAF7
  hgvsc: ENST00000431821.1:c.445-12T>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000394436
  ensembl transcript: ENST00000439218
  gene symbol: NDUFAF7
  hgvsc: ENST00000439218.1:c.556-12T>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474257
  gene symbol: NDUFAF7
  hgvsc: ENST00000474257.1:n.756-12T>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000416594
  ensembl transcript: ENST00000455230
  gene symbol: NDUFAF7
  hgvsc: ENST00000455230.1:c.*82-12T>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000483999
  gene symbol: NDUFAF7
  hgvsc: ENST00000483999.1:n.457-12T>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000337431
  ensembl transcript: ENST00000336237
  gene symbol: NDUFAF7
  hgvsc: ENST00000336237.6:c.388-12T>C
  variant of: http://identifiers.org/hgnc/28816
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5522
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6950
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3677
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32912
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7266
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1504
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

2-37470996-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37470996
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 37470996
    reference: chr 2
allele count: 1
allele frequency: 9.194387745720013e-6
allele num: 108762
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474257
  gene symbol: NDUFAF7
  hgvsc: ENST00000474257.1:n.756-10T>A
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474154
  gene symbol: NDUFAF7
  hgvsc: ENST00000474154.1:n.1568-58T>A
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000399207
  ensembl transcript: ENST00000431821
  gene symbol: NDUFAF7
  hgvsc: ENST00000431821.1:c.445-10T>A
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000002125
  ensembl transcript: ENST00000002125
  gene symbol: NDUFAF7
  hgvsc: ENST00000002125.4:c.682-10T>A
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000337431
  ensembl transcript: ENST00000336237
  gene symbol: NDUFAF7
  hgvsc: ENST00000336237.6:c.388-10T>A
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000394436
  ensembl transcript: ENST00000439218
  gene symbol: NDUFAF7
  hgvsc: ENST00000439218.1:c.556-10T>A
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000483999
  gene symbol: NDUFAF7
  hgvsc: ENST00000483999.1:n.457-10T>A
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000416594
  ensembl transcript: ENST00000455230
  gene symbol: NDUFAF7
  hgvsc: ENST00000455230.1:c.*82-10T>A
  variant of: http://identifiers.org/hgnc/28816
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34280
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5660
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6191
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3018
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6461
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38003
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP

2-37471000-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37471000
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 37471000
    reference: chr 2
allele count: 2
allele frequency: 1.792660846494452e-5
allele num: 111566
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474257
  gene symbol: NDUFAF7
  hgvsc: ENST00000474257.1:n.756-6G>A
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000394436
  ensembl transcript: ENST00000439218
  gene symbol: NDUFAF7
  hgvsc: ENST00000439218.1:c.556-6G>A
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000416594
  ensembl transcript: ENST00000455230
  gene symbol: NDUFAF7
  hgvsc: ENST00000455230.1:c.*82-6G>A
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000483999
  gene symbol: NDUFAF7
  hgvsc: ENST00000483999.1:n.457-6G>A
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000337431
  ensembl transcript: ENST00000336237
  gene symbol: NDUFAF7
  hgvsc: ENST00000336237.6:c.388-6G>A
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000399207
  ensembl transcript: ENST00000431821
  gene symbol: NDUFAF7
  hgvsc: ENST00000431821.1:c.445-6G>A
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000002125
  ensembl transcript: ENST00000002125
  gene symbol: NDUFAF7
  hgvsc: ENST00000002125.4:c.682-6G>A
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474154
  gene symbol: NDUFAF7
  hgvsc: ENST00000474154.1:n.1568-54G>A
  variant of: http://identifiers.org/hgnc/28816
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36119
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4773
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1659
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2119
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6119
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 870
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40069
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 854
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 5.25e1
  variant carriers: 0
hgvs: c.682-6G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD

2-37471000-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37471000
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 37471000
    reference: chr 2
allele count: 2
allele frequency: 1.792660846494452e-5
allele num: 111566
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474154
  gene symbol: NDUFAF7
  hgvsc: ENST00000474154.1:n.1568-54G>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000337431
  ensembl transcript: ENST00000336237
  gene symbol: NDUFAF7
  hgvsc: ENST00000336237.6:c.388-6G>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000483999
  gene symbol: NDUFAF7
  hgvsc: ENST00000483999.1:n.457-6G>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000002125
  ensembl transcript: ENST00000002125
  gene symbol: NDUFAF7
  hgvsc: ENST00000002125.4:c.682-6G>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000394436
  ensembl transcript: ENST00000439218
  gene symbol: NDUFAF7
  hgvsc: ENST00000439218.1:c.556-6G>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000399207
  ensembl transcript: ENST00000431821
  gene symbol: NDUFAF7
  hgvsc: ENST00000431821.1:c.445-6G>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000416594
  ensembl transcript: ENST00000455230
  gene symbol: NDUFAF7
  hgvsc: ENST00000455230.1:c.*82-6G>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474257
  gene symbol: NDUFAF7
  hgvsc: ENST00000474257.1:n.756-6G>C
  variant of: http://identifiers.org/hgnc/28816
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4773
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2119
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1659
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6119
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36119
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2126
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 870
  bin: 2.75e1
  variant carriers: 0
hgvs: c.682-6G>C
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

2-37471001-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37471001
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 37471001
    reference: chr 2
allele count: 1
allele frequency: 8.913291500285225e-6
allele num: 112192
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000399207
  ensembl transcript: ENST00000431821
  gene symbol: NDUFAF7
  hgvsc: ENST00000431821.1:c.445-5T>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474257
  gene symbol: NDUFAF7
  hgvsc: ENST00000474257.1:n.756-5T>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000394436
  ensembl transcript: ENST00000439218
  gene symbol: NDUFAF7
  hgvsc: ENST00000439218.1:c.556-5T>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474154
  gene symbol: NDUFAF7
  hgvsc: ENST00000474154.1:n.1568-53T>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000416594
  ensembl transcript: ENST00000455230
  gene symbol: NDUFAF7
  hgvsc: ENST00000455230.1:c.*82-5T>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000483999
  gene symbol: NDUFAF7
  hgvsc: ENST00000483999.1:n.457-5T>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000002125
  ensembl transcript: ENST00000002125
  gene symbol: NDUFAF7
  hgvsc: ENST00000002125.4:c.682-5T>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000337431
  ensembl transcript: ENST00000336237
  gene symbol: NDUFAF7
  hgvsc: ENST00000336237.6:c.388-5T>C
  variant of: http://identifiers.org/hgnc/28816
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36470
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6239
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1637
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4500
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 796
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 9.25e1
  variant carriers: 0
hgvs: c.682-5T>C
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum

2-37471004-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37471004
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 37471004
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 113914
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000483999
  gene symbol: NDUFAF7
  hgvsc: ENST00000483999.1:n.457-2A>T
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000416594
  ensembl transcript: ENST00000455230
  gene symbol: NDUFAF7
  hgvsc: ENST00000455230.1:c.*82-2A>T
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000399207
  ensembl transcript: ENST00000431821
  gene symbol: NDUFAF7
  hgvsc: ENST00000431821.1:c.445-2A>T
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474257
  gene symbol: NDUFAF7
  hgvsc: ENST00000474257.1:n.756-2A>T
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000394436
  ensembl transcript: ENST00000439218
  gene symbol: NDUFAF7
  hgvsc: ENST00000439218.1:c.556-2A>T
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000337431
  ensembl transcript: ENST00000336237
  gene symbol: NDUFAF7
  hgvsc: ENST00000336237.6:c.388-2A>T
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000002125
  ensembl transcript: ENST00000002125
  gene symbol: NDUFAF7
  hgvsc: ENST00000002125.4:c.682-2A>T
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474154
  gene symbol: NDUFAF7
  hgvsc: ENST00000474154.1:n.1568-50A>T
  variant of: http://identifiers.org/hgnc/28816
canonical: true
consequence: splice acceptor
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1687
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6446
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3657
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37555
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41830
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2242
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3858
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8208
  bin: 9.75e1
  variant carriers: 0
hgvs: c.682-2A>T
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
reference allele: A
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP

2-37471008-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37471008
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 37471008
    reference: chr 2
allele count: 1
allele frequency: 8.640503222907702e-6
allele num: 115734
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474154
  gene symbol: NDUFAF7
  hgvsc: ENST00000474154.1:n.1568-46A>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000394436
  ensembl transcript: ENST00000439218
  gene symbol: NDUFAF7
  hgvsc: ENST00000439218.1:c.558A>G
  hgvsp: ENST00000439218.1:c.558A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000002125
  ensembl transcript: ENST00000002125
  gene symbol: NDUFAF7
  hgvsc: ENST00000002125.4:c.684A>G
  hgvsp: ENST00000002125.4:c.684A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000337431
  ensembl transcript: ENST00000336237
  gene symbol: NDUFAF7
  hgvsc: ENST00000336237.6:c.390A>G
  hgvsp: ENST00000336237.6:c.390A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000483999
  gene symbol: NDUFAF7
  hgvsc: ENST00000483999.1:n.459A>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000416594
  ensembl transcript: ENST00000455230
  gene symbol: NDUFAF7
  hgvsc: ENST00000455230.1:c.*84A>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000399207
  ensembl transcript: ENST00000431821
  gene symbol: NDUFAF7
  hgvsc: ENST00000431821.1:c.447A>G
  hgvsp: ENST00000431821.1:c.447A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474257
  gene symbol: NDUFAF7
  hgvsc: ENST00000474257.1:n.758A>G
  variant of: http://identifiers.org/hgnc/28816
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2780
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1707
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38681
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6718
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8209
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 5.25e1
  variant carriers: 0
hgvs: c.684A>G
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS

2-37471013-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37471013
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 37471014
    reference: chr 2
allele count: 2
allele frequency: 1.706979840568083e-5
allele num: 117166
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000394436
  ensembl transcript: ENST00000439218
  gene symbol: NDUFAF7
  hgvsc: ENST00000439218.1:c.563_564insT
  hgvsp: ENSP00000394436.1:p.Gln189ThrfsTer9
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000337431
  ensembl transcript: ENST00000336237
  gene symbol: NDUFAF7
  hgvsc: ENST00000336237.6:c.395_396insT
  hgvsp: ENSP00000337431.6:p.Gln133ThrfsTer9
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000002125
  ensembl transcript: ENST00000002125
  gene symbol: NDUFAF7
  hgvsc: ENST00000002125.4:c.689_690insT
  hgvsp: ENSP00000002125.4:p.Gln231ThrfsTer9
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000483999
  gene symbol: NDUFAF7
  hgvsc: ENST00000483999.1:n.464_465insT
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000416594
  ensembl transcript: ENST00000455230
  gene symbol: NDUFAF7
  hgvsc: ENST00000455230.1:c.*89_*90insT
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474154
  gene symbol: NDUFAF7
  hgvsc: ENST00000474154.1:n.1568-41_1568-40insT
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000399207
  ensembl transcript: ENST00000431821
  gene symbol: NDUFAF7
  hgvsc: ENST00000431821.1:c.452_453insT
  hgvsp: ENSP00000399207.1:p.Gln152ThrfsTer9
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474257
  gene symbol: NDUFAF7
  hgvsc: ENST00000474257.1:n.763_764insT
  variant of: http://identifiers.org/hgnc/28816
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2063
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39277
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1778
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7114
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gln231ThrfsTer9
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff

2-37471013-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37471013
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 37471013
    reference: chr 2
allele count: 1
allele frequency: 8.534899202840414e-6
allele num: 117166
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000394436
  ensembl transcript: ENST00000439218
  gene symbol: NDUFAF7
  hgvsc: ENST00000439218.1:c.563C>T
  hgvsp: ENSP00000394436.1:p.Pro188Leu
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474257
  gene symbol: NDUFAF7
  hgvsc: ENST00000474257.1:n.763C>T
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000483999
  gene symbol: NDUFAF7
  hgvsc: ENST00000483999.1:n.464C>T
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000002125
  ensembl transcript: ENST00000002125
  gene symbol: NDUFAF7
  hgvsc: ENST00000002125.4:c.689C>T
  hgvsp: ENSP00000002125.4:p.Pro230Leu
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000399207
  ensembl transcript: ENST00000431821
  gene symbol: NDUFAF7
  hgvsc: ENST00000431821.1:c.452C>T
  hgvsp: ENSP00000399207.1:p.Pro151Leu
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474154
  gene symbol: NDUFAF7
  hgvsc: ENST00000474154.1:n.1568-41C>T
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000337431
  ensembl transcript: ENST00000336237
  gene symbol: NDUFAF7
  hgvsc: ENST00000336237.6:c.395C>T
  hgvsp: ENSP00000337431.6:p.Pro132Leu
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000416594
  ensembl transcript: ENST00000455230
  gene symbol: NDUFAF7
  hgvsc: ENST00000455230.1:c.*89C>T
  variant of: http://identifiers.org/hgnc/28816
canonical: true
consequence: missense
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1778
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39277
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7114
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2063
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8209
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2226
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro230Leu
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

2-37471016-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37471016
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 37471016
    reference: chr 2
allele count: 1
allele frequency: 8.490117503226245e-6
allele num: 117784
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474257
  gene symbol: NDUFAF7
  hgvsc: ENST00000474257.1:n.766A>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000483999
  gene symbol: NDUFAF7
  hgvsc: ENST00000483999.1:n.467A>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000394436
  ensembl transcript: ENST00000439218
  gene symbol: NDUFAF7
  hgvsc: ENST00000439218.1:c.566A>G
  hgvsp: ENSP00000394436.1:p.Gln189Arg
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000002125
  ensembl transcript: ENST00000002125
  gene symbol: NDUFAF7
  hgvsc: ENST00000002125.4:c.692A>G
  hgvsp: ENSP00000002125.4:p.Gln231Arg
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000399207
  ensembl transcript: ENST00000431821
  gene symbol: NDUFAF7
  hgvsc: ENST00000431821.1:c.455A>G
  hgvsp: ENSP00000399207.1:p.Gln152Arg
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000337431
  ensembl transcript: ENST00000336237
  gene symbol: NDUFAF7
  hgvsc: ENST00000336237.6:c.398A>G
  hgvsp: ENSP00000337431.6:p.Gln133Arg
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000416594
  ensembl transcript: ENST00000455230
  gene symbol: NDUFAF7
  hgvsc: ENST00000455230.1:c.*92A>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474154
  gene symbol: NDUFAF7
  hgvsc: ENST00000474154.1:n.1568-38A>G
  variant of: http://identifiers.org/hgnc/28816
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7333
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39449
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1764
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gln231Arg
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

2-37471017-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37471017
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 37471017
    reference: chr 2
allele count: 1
allele frequency: 8.485074753508579e-6
allele num: 117854
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000002125
  ensembl transcript: ENST00000002125
  gene symbol: NDUFAF7
  hgvsc: ENST00000002125.4:c.693G>C
  hgvsp: ENSP00000002125.4:p.Gln231His
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000483999
  gene symbol: NDUFAF7
  hgvsc: ENST00000483999.1:n.468G>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474257
  gene symbol: NDUFAF7
  hgvsc: ENST00000474257.1:n.767G>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000337431
  ensembl transcript: ENST00000336237
  gene symbol: NDUFAF7
  hgvsc: ENST00000336237.6:c.399G>C
  hgvsp: ENSP00000337431.6:p.Gln133His
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000394436
  ensembl transcript: ENST00000439218
  gene symbol: NDUFAF7
  hgvsc: ENST00000439218.1:c.567G>C
  hgvsp: ENSP00000394436.1:p.Gln189His
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000416594
  ensembl transcript: ENST00000455230
  gene symbol: NDUFAF7
  hgvsc: ENST00000455230.1:c.*93G>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000399207
  ensembl transcript: ENST00000431821
  gene symbol: NDUFAF7
  hgvsc: ENST00000431821.1:c.456G>C
  hgvsp: ENSP00000399207.1:p.Gln152His
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474154
  gene symbol: NDUFAF7
  hgvsc: ENST00000474154.1:n.1568-37G>C
  variant of: http://identifiers.org/hgnc/28816
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1828
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7396
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39433
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44542
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gln231His
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: African
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

2-37471020-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37471020
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 37471020
    reference: chr 2
allele count: 1
allele frequency: 8.45522955948254e-6
allele num: 118270
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000337431
  ensembl transcript: ENST00000336237
  gene symbol: NDUFAF7
  hgvsc: ENST00000336237.6:c.402A>G
  hgvsp: ENST00000336237.6:c.402A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000394436
  ensembl transcript: ENST00000439218
  gene symbol: NDUFAF7
  hgvsc: ENST00000439218.1:c.570A>G
  hgvsp: ENST00000439218.1:c.570A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000416594
  ensembl transcript: ENST00000455230
  gene symbol: NDUFAF7
  hgvsc: ENST00000455230.1:c.*96A>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000002125
  ensembl transcript: ENST00000002125
  gene symbol: NDUFAF7
  hgvsc: ENST00000002125.4:c.696A>G
  hgvsp: ENST00000002125.4:c.696A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000399207
  ensembl transcript: ENST00000431821
  gene symbol: NDUFAF7
  hgvsc: ENST00000431821.1:c.459A>G
  hgvsp: ENST00000431821.1:c.459A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474257
  gene symbol: NDUFAF7
  hgvsc: ENST00000474257.1:n.770A>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474154
  gene symbol: NDUFAF7
  hgvsc: ENST00000474154.1:n.1568-34A>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000483999
  gene symbol: NDUFAF7
  hgvsc: ENST00000483999.1:n.471A>G
  variant of: http://identifiers.org/hgnc/28816
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1798
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39516
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7612
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2523
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly232Gly
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

2-37471024-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37471024
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 37471024
    reference: chr 2
allele count: 2
allele frequency: 1.686056314280897e-5
allele num: 118620
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000416594
  ensembl transcript: ENST00000455230
  gene symbol: NDUFAF7
  hgvsc: ENST00000455230.1:c.*100C>T
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000399207
  ensembl transcript: ENST00000431821
  gene symbol: NDUFAF7
  hgvsc: ENST00000431821.1:c.463C>T
  hgvsp: ENSP00000399207.1:p.Arg155Ter
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000394436
  ensembl transcript: ENST00000439218
  gene symbol: NDUFAF7
  hgvsc: ENST00000439218.1:c.574C>T
  hgvsp: ENSP00000394436.1:p.Arg192Ter
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000002125
  ensembl transcript: ENST00000002125
  gene symbol: NDUFAF7
  hgvsc: ENST00000002125.4:c.700C>T
  hgvsp: ENSP00000002125.4:p.Arg234Ter
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474257
  gene symbol: NDUFAF7
  hgvsc: ENST00000474257.1:n.774C>T
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000337431
  ensembl transcript: ENST00000336237
  gene symbol: NDUFAF7
  hgvsc: ENST00000336237.6:c.406C>T
  hgvsp: ENSP00000337431.6:p.Arg136Ter
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474154
  gene symbol: NDUFAF7
  hgvsc: ENST00000474154.1:n.1568-30C>T
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000483999
  gene symbol: NDUFAF7
  hgvsc: ENST00000483999.1:n.475C>T
  variant of: http://identifiers.org/hgnc/28816
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7855
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39410
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8211
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1472
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg234Ter
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: African
reference allele: C
site quality: MQ
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum

2-37471025-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37471025
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 37471025
    reference: chr 2
allele count: 10
allele frequency: 8.422187410514259e-5
allele num: 118734
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474154
  gene symbol: NDUFAF7
  hgvsc: ENST00000474154.1:n.1568-29G>A
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000002125
  ensembl transcript: ENST00000002125
  gene symbol: NDUFAF7
  hgvsc: ENST00000002125.4:c.701G>A
  hgvsp: ENSP00000002125.4:p.Arg234Gln
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000483999
  gene symbol: NDUFAF7
  hgvsc: ENST00000483999.1:n.476G>A
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000416594
  ensembl transcript: ENST00000455230
  gene symbol: NDUFAF7
  hgvsc: ENST00000455230.1:c.*101G>A
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474257
  gene symbol: NDUFAF7
  hgvsc: ENST00000474257.1:n.775G>A
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000394436
  ensembl transcript: ENST00000439218
  gene symbol: NDUFAF7
  hgvsc: ENST00000439218.1:c.575G>A
  hgvsp: ENSP00000394436.1:p.Arg192Gln
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000337431
  ensembl transcript: ENST00000336237
  gene symbol: NDUFAF7
  hgvsc: ENST00000336237.6:c.407G>A
  hgvsp: ENSP00000337431.6:p.Arg136Gln
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000399207
  ensembl transcript: ENST00000431821
  gene symbol: NDUFAF7
  hgvsc: ENST00000431821.1:c.464G>A
  hgvsp: ENSP00000399207.1:p.Arg155Gln
  variant of: http://identifiers.org/hgnc/28816
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1889
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7921
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39422
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45129
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg234Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

2-37471027-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37471027
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 37471027
    reference: chr 2
allele count: 2
allele frequency: 1.681039554860726e-5
allele num: 118974
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474257
  gene symbol: NDUFAF7
  hgvsc: ENST00000474257.1:n.777G>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474154
  gene symbol: NDUFAF7
  hgvsc: ENST00000474154.1:n.1568-27G>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000394436
  ensembl transcript: ENST00000439218
  gene symbol: NDUFAF7
  hgvsc: ENST00000439218.1:c.577G>C
  hgvsp: ENSP00000394436.1:p.Glu193Gln
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000337431
  ensembl transcript: ENST00000336237
  gene symbol: NDUFAF7
  hgvsc: ENST00000336237.6:c.409G>C
  hgvsp: ENSP00000337431.6:p.Glu137Gln
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000399207
  ensembl transcript: ENST00000431821
  gene symbol: NDUFAF7
  hgvsc: ENST00000431821.1:c.466G>C
  hgvsp: ENSP00000399207.1:p.Glu156Gln
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000002125
  ensembl transcript: ENST00000002125
  gene symbol: NDUFAF7
  hgvsc: ENST00000002125.4:c.703G>C
  hgvsp: ENSP00000002125.4:p.Glu235Gln
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000483999
  gene symbol: NDUFAF7
  hgvsc: ENST00000483999.1:n.478G>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000416594
  ensembl transcript: ENST00000455230
  gene symbol: NDUFAF7
  hgvsc: ENST00000455230.1:c.*103G>C
  variant of: http://identifiers.org/hgnc/28816
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8026
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39512
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1874
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Glu235Gln
num of homozygotes: 1
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ

2-37471036-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37471036
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 37471036
    reference: chr 2
allele count: 1
allele frequency: 8.373526259378349e-6
allele num: 119424
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474154
  gene symbol: NDUFAF7
  hgvsc: ENST00000474154.1:n.1568-18G>A
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000483999
  gene symbol: NDUFAF7
  hgvsc: ENST00000483999.1:n.487G>A
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000337431
  ensembl transcript: ENST00000336237
  gene symbol: NDUFAF7
  hgvsc: ENST00000336237.6:c.418G>A
  hgvsp: ENSP00000337431.6:p.Val140Ile
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000002125
  ensembl transcript: ENST00000002125
  gene symbol: NDUFAF7
  hgvsc: ENST00000002125.4:c.712G>A
  hgvsp: ENSP00000002125.4:p.Val238Ile
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000399207
  ensembl transcript: ENST00000431821
  gene symbol: NDUFAF7
  hgvsc: ENST00000431821.1:c.475G>A
  hgvsp: ENSP00000399207.1:p.Val159Ile
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474257
  gene symbol: NDUFAF7
  hgvsc: ENST00000474257.1:n.786G>A
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000416594
  ensembl transcript: ENST00000455230
  gene symbol: NDUFAF7
  hgvsc: ENST00000455230.1:c.*112G>A
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000394436
  ensembl transcript: ENST00000439218
  gene symbol: NDUFAF7
  hgvsc: ENST00000439218.1:c.586G>A
  hgvsp: ENSP00000394436.1:p.Val196Ile
  variant of: http://identifiers.org/hgnc/28816
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8288
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39586
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val238Ile
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum

2-37471037-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37471037
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 37471037
    reference: chr 2
allele count: 1
allele frequency: 8.36988181726874e-6
allele num: 119476
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000002125
  ensembl transcript: ENST00000002125
  gene symbol: NDUFAF7
  hgvsc: ENST00000002125.4:c.713T>C
  hgvsp: ENSP00000002125.4:p.Val238Ala
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000416594
  ensembl transcript: ENST00000455230
  gene symbol: NDUFAF7
  hgvsc: ENST00000455230.1:c.*113T>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000394436
  ensembl transcript: ENST00000439218
  gene symbol: NDUFAF7
  hgvsc: ENST00000439218.1:c.587T>C
  hgvsp: ENSP00000394436.1:p.Val196Ala
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000399207
  ensembl transcript: ENST00000431821
  gene symbol: NDUFAF7
  hgvsc: ENST00000431821.1:c.476T>C
  hgvsp: ENSP00000399207.1:p.Val159Ala
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000337431
  ensembl transcript: ENST00000336237
  gene symbol: NDUFAF7
  hgvsc: ENST00000336237.6:c.419T>C
  hgvsp: ENSP00000337431.6:p.Val140Ala
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474257
  gene symbol: NDUFAF7
  hgvsc: ENST00000474257.1:n.787T>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000483999
  gene symbol: NDUFAF7
  hgvsc: ENST00000483999.1:n.488T>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474154
  gene symbol: NDUFAF7
  hgvsc: ENST00000474154.1:n.1568-17T>C
  variant of: http://identifiers.org/hgnc/28816
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8319
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1879
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39590
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45545
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1042
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Val238Ala
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

2-37471041-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37471041
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 37471041
    reference: chr 2
allele count: 13
allele frequency: 1.086738447134354e-4
allele num: 119624
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000483999
  gene symbol: NDUFAF7
  hgvsc: ENST00000483999.1:n.492C>T
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000399207
  ensembl transcript: ENST00000431821
  gene symbol: NDUFAF7
  hgvsc: ENST00000431821.1:c.480C>T
  hgvsp: ENST00000431821.1:c.480C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000394436
  ensembl transcript: ENST00000439218
  gene symbol: NDUFAF7
  hgvsc: ENST00000439218.1:c.591C>T
  hgvsp: ENST00000439218.1:c.591C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000416594
  ensembl transcript: ENST00000455230
  gene symbol: NDUFAF7
  hgvsc: ENST00000455230.1:c.*117C>T
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000002125
  ensembl transcript: ENST00000002125
  gene symbol: NDUFAF7
  hgvsc: ENST00000002125.4:c.717C>T
  hgvsp: ENST00000002125.4:c.717C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474257
  gene symbol: NDUFAF7
  hgvsc: ENST00000474257.1:n.791C>T
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000337431
  ensembl transcript: ENST00000336237
  gene symbol: NDUFAF7
  hgvsc: ENST00000336237.6:c.423C>T
  hgvsp: ENST00000336237.6:c.423C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474154
  gene symbol: NDUFAF7
  hgvsc: ENST00000474154.1:n.1568-13C>T
  variant of: http://identifiers.org/hgnc/28816
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1899
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39548
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8451
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 988
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asp239Asp
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

2-37471054-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37471054
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 37471054
    reference: chr 2
allele count: 1
allele frequency: 8.345434212942099e-6
allele num: 119826
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474154
  gene symbol: NDUFAF7
  hgvsc: ENST00000474154.1:n.1568G>A
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000002125
  ensembl transcript: ENST00000002125
  gene symbol: NDUFAF7
  hgvsc: ENST00000002125.4:c.730G>A
  hgvsp: ENSP00000002125.4:p.Val244Ile
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000416594
  ensembl transcript: ENST00000455230
  gene symbol: NDUFAF7
  hgvsc: ENST00000455230.1:c.*130G>A
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000337431
  ensembl transcript: ENST00000336237
  gene symbol: NDUFAF7
  hgvsc: ENST00000336237.6:c.436G>A
  hgvsp: ENSP00000337431.6:p.Val146Ile
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000394436
  ensembl transcript: ENST00000439218
  gene symbol: NDUFAF7
  hgvsc: ENST00000439218.1:c.604G>A
  hgvsp: ENSP00000394436.1:p.Val202Ile
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000483999
  gene symbol: NDUFAF7
  hgvsc: ENST00000483999.1:n.505G>A
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474257
  gene symbol: NDUFAF7
  hgvsc: ENST00000474257.1:n.804G>A
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000399207
  ensembl transcript: ENST00000431821
  gene symbol: NDUFAF7
  hgvsc: ENST00000431821.1:c.493G>A
  hgvsp: ENSP00000399207.1:p.Val165Ile
  variant of: http://identifiers.org/hgnc/28816
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8666
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39456
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1908
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2642
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Val244Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum

2-37471055-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37471055
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 37471055
    reference: chr 2
allele count: 2
allele frequency: 1.669226146758363e-5
allele num: 119816
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000483999
  gene symbol: NDUFAF7
  hgvsc: ENST00000483999.1:n.506T>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474154
  gene symbol: NDUFAF7
  hgvsc: ENST00000474154.1:n.1569T>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000394436
  ensembl transcript: ENST00000439218
  gene symbol: NDUFAF7
  hgvsc: ENST00000439218.1:c.605T>G
  hgvsp: ENSP00000394436.1:p.Val202Gly
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000416594
  ensembl transcript: ENST00000455230
  gene symbol: NDUFAF7
  hgvsc: ENST00000455230.1:c.*131T>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000337431
  ensembl transcript: ENST00000336237
  gene symbol: NDUFAF7
  hgvsc: ENST00000336237.6:c.437T>G
  hgvsp: ENSP00000337431.6:p.Val146Gly
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000399207
  ensembl transcript: ENST00000431821
  gene symbol: NDUFAF7
  hgvsc: ENST00000431821.1:c.494T>G
  hgvsp: ENSP00000399207.1:p.Val165Gly
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000002125
  ensembl transcript: ENST00000002125
  gene symbol: NDUFAF7
  hgvsc: ENST00000002125.4:c.731T>G
  hgvsp: ENSP00000002125.4:p.Val244Gly
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474257
  gene symbol: NDUFAF7
  hgvsc: ENST00000474257.1:n.805T>G
  variant of: http://identifiers.org/hgnc/28816
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39409
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8683
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1900
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45990
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 989
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2646
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Val244Gly
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

2-37471056-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37471056
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 37471056
    reference: chr 2
allele count: 1
allele frequency: 8.345852111500584e-6
allele num: 119820
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000416594
  ensembl transcript: ENST00000455230
  gene symbol: NDUFAF7
  hgvsc: ENST00000455230.1:c.*132T>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000337431
  ensembl transcript: ENST00000336237
  gene symbol: NDUFAF7
  hgvsc: ENST00000336237.6:c.438T>C
  hgvsp: ENST00000336237.6:c.438T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000002125
  ensembl transcript: ENST00000002125
  gene symbol: NDUFAF7
  hgvsc: ENST00000002125.4:c.732T>C
  hgvsp: ENST00000002125.4:c.732T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000483999
  gene symbol: NDUFAF7
  hgvsc: ENST00000483999.1:n.507T>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000399207
  ensembl transcript: ENST00000431821
  gene symbol: NDUFAF7
  hgvsc: ENST00000431821.1:c.495T>C
  hgvsp: ENST00000431821.1:c.495T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474257
  gene symbol: NDUFAF7
  hgvsc: ENST00000474257.1:n.806T>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474154
  gene symbol: NDUFAF7
  hgvsc: ENST00000474154.1:n.1570T>C
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000394436
  ensembl transcript: ENST00000439218
  gene symbol: NDUFAF7
  hgvsc: ENST00000439218.1:c.606T>C
  hgvsp: ENST00000439218.1:c.606T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28816
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8692
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39393
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1896
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2650
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45987
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: n.1570T>C
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: T
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

2-37471058-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37471058
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 37471058
    reference: chr 2
allele count: 2
allele frequency: 1.671095068598453e-5
allele num: 119682
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000002125
  ensembl transcript: ENST00000002125
  gene symbol: NDUFAF7
  hgvsc: ENST00000002125.4:c.734C>G
  hgvsp: ENSP00000002125.4:p.Ser245Cys
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000483999
  gene symbol: NDUFAF7
  hgvsc: ENST00000483999.1:n.509C>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474154
  gene symbol: NDUFAF7
  hgvsc: ENST00000474154.1:n.1572C>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000399207
  ensembl transcript: ENST00000431821
  gene symbol: NDUFAF7
  hgvsc: ENST00000431821.1:c.497C>G
  hgvsp: ENSP00000399207.1:p.Ser166Cys
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000394436
  ensembl transcript: ENST00000439218
  gene symbol: NDUFAF7
  hgvsc: ENST00000439218.1:c.608C>G
  hgvsp: ENSP00000394436.1:p.Ser203Cys
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000337431
  ensembl transcript: ENST00000336237
  gene symbol: NDUFAF7
  hgvsc: ENST00000336237.6:c.440C>G
  hgvsp: ENSP00000337431.6:p.Ser147Cys
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474257
  gene symbol: NDUFAF7
  hgvsc: ENST00000474257.1:n.808C>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000416594
  ensembl transcript: ENST00000455230
  gene symbol: NDUFAF7
  hgvsc: ENST00000455230.1:c.*134C>G
  variant of: http://identifiers.org/hgnc/28816
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39143
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8733
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1909
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2634
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1128
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser245Cys
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD

2-37471059-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37471059
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 37471059
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 119684
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000416594
  ensembl transcript: ENST00000455230
  gene symbol: NDUFAF7
  hgvsc: ENST00000455230.1:c.*135T>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000394436
  ensembl transcript: ENST00000439218
  gene symbol: NDUFAF7
  hgvsc: ENST00000439218.1:c.609T>G
  hgvsp: ENST00000439218.1:c.609T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474154
  gene symbol: NDUFAF7
  hgvsc: ENST00000474154.1:n.1573T>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000474257
  gene symbol: NDUFAF7
  hgvsc: ENST00000474257.1:n.809T>G
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000337431
  ensembl transcript: ENST00000336237
  gene symbol: NDUFAF7
  hgvsc: ENST00000336237.6:c.441T>G
  hgvsp: ENST00000336237.6:c.441T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000002125
  ensembl transcript: ENST00000002125
  gene symbol: NDUFAF7
  hgvsc: ENST00000002125.4:c.735T>G
  hgvsp: ENST00000002125.4:c.735T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000003509
  ensembl protein: ENSP00000399207
  ensembl transcript: ENST00000431821
  gene symbol: NDUFAF7
  hgvsc: ENST00000431821.1:c.498T>G
  hgvsp: ENST00000431821.1:c.498T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000003509
  ensembl transcript: ENST00000483999
  gene symbol: NDUFAF7
  hgvsc: ENST00000483999.1:n.510T>G
  variant of: http://identifiers.org/hgnc/28816
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1920
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39120
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8750
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser245Ser
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 873
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 10260
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6528
num of homozygotes: 0

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

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

Other
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allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66048
num of homozygotes: 0

South Asian
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allele frequency: 6.201165819174004e-5
allele num: 16126
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
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SIO_000300: 0.0e0

ClippingRankSum
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MQ
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QD
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BaseQRankSum
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SIO_000300: 2.59e0

VQSLOD
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ReadPosRankSum
type: SiteQuality
SIO_000300: 5.600000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.461544e6

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.514050387596899e-5
allele num: 66048
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6528
num of homozygotes: 0

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

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

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

InbreedingCoeff
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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QD
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MQ
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VQSLOD
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FS
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SIO_000300: 0.0e0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11182
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6444
num of homozygotes: 0

East Asian
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allele frequency: 1.170686022008897e-4
allele num: 8542
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10128
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15848
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65300
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.3336e1

ReadPosRankSum
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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MQRankSum
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DP
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 11182
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15848
num of homozygotes: 0

Other
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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: 8542
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10128
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6444
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.531393568147014e-5
allele num: 65300
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.067e0

VQSLOD
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FS
type: SiteQuality
SIO_000300: 1.3336e1

MQRankSum
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DP
type: SiteQuality
SIO_000300: 1.430596e6

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

MQ
type: SiteQuality
SIO_000300: 3.732e1

QD
type: SiteQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6444
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10128
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11182
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15848
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65300
num of homozygotes: 0

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

East Asian
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allele count: 1
allele frequency: 1.170686022008897e-4
allele num: 8542
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.3336e1

BaseQRankSum
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ReadPosRankSum
type: SiteQuality
SIO_000300: -3.58e-1

MQ
type: SiteQuality
SIO_000300: 3.732e1

MQRankSum
type: SiteQuality
SIO_000300: -1.067e0

QD
type: SiteQuality
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15848
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10128
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8542
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65300
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6444
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11182
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
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MQRankSum
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FS
type: SiteQuality
SIO_000300: 1.3336e1

ClippingRankSum
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8514
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.534495457893445e-5
allele num: 65168
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 3
allele frequency: 4.667081518357187e-4
allele num: 6428
num of homozygotes: 0

Latino
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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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ReadPosRankSum
type: SiteQuality
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QD
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MQRankSum
type: SiteQuality
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.425051e6

FS
type: SiteQuality
SIO_000300: 1.375e0

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

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

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

African
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allele frequency: 0.0e0
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East Asian
type: Population
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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

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

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

European (Non-Finnish)
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allele num: 63986
num of homozygotes: 0

East Asian
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Other
type: Population
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num of homozygotes: 0

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

European (Finnish)
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num of homozygotes: 0

DP
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
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ClippingRankSum
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ReadPosRankSum
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MQ
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
all individuals: 716
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 3
allele frequency: 2.817430503380916e-4
allele num: 10648
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6212
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9744
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62914
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8088
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15284
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.984e1

MQRankSum
type: SiteQuality
SIO_000300: -1.303e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.0e-1

FS
type: SiteQuality
SIO_000300: 8.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

VQSLOD
type: SiteQuality
SIO_000300: -5.141e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.74e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.339e0

QD
type: SiteQuality
SIO_000300: 1.569e1

DP
type: SiteQuality
SIO_000300: 1.293683e6

GenotypeQuality
all individuals: 194
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
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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: 533
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 713
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.590583744234134e-5
allele num: 62870
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10648
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6206
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8086
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15272
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -6.12e-1

QD
type: SiteQuality
SIO_000300: 5.39e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 8.45e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.264e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.69e-1

DP
type: SiteQuality
SIO_000300: 1.293374e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.534e0

GenotypeQuality
all individuals: 37
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 667
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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: 351
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 727
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.609943008017516e-5
allele num: 62114
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7956
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9606
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15106
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10454
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6130
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.068e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.715e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.794e0

VQSLOD
type: SiteQuality
SIO_000300: -1.282e0

MQRankSum
type: SiteQuality
SIO_000300: 8.34e-1

DP
type: SiteQuality
SIO_000300: 1.213565e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.69e0

GenotypeQuality
all individuals: 13541
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2568
bin: 4.25e1
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GenotypeQuality
all individuals: 773
bin: 9.75e1
variant carriers: 4

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5864
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9130
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7470
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 806
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14338
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.789557660318431e-5
allele num: 58914
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9774
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.34e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.34e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.77e0

DP
type: SiteQuality
SIO_000300: 1.037799e6

MQ
type: SiteQuality
SIO_000300: 6.049e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.09e-1

FS
type: SiteQuality
SIO_000300: 5.998e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.350000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.481e1

GenotypeQuality
all individuals: 1388
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 12819
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9047
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variant carriers: 0

GenotypeQuality
all individuals: 1307
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variant carriers: 0

GenotypeQuality
all individuals: 770
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variant carriers: 1

GenotypeQuality
all individuals: 525
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GenotypeQuality
all individuals: 181
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GenotypeQuality
all individuals: 1682
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variant carriers: 0

GenotypeQuality
all individuals: 3011
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1389
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variant carriers: 0

GenotypeQuality
all individuals: 7548
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GenotypeQuality
all individuals: 3752
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8988
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57948
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.376651982378855e-4
allele num: 7264
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5790
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9560
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14096
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 802
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.023077e6

VQSLOD
type: SiteQuality
SIO_000300: -1.142e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.889999999999999e-1

QD
type: SiteQuality
SIO_000300: 8.859999999999999e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 8.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.134e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 132
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1307
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3011
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1389
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variant carriers: 0

GenotypeQuality
all individuals: 12819
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
all individuals: 1682
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variant carriers: 0

GenotypeQuality
all individuals: 7548
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 181
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GenotypeQuality
all individuals: 293
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 424
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3752
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5790
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8988
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57948
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9560
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7264
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.094211123723042e-5
allele num: 14096
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 802
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.023077e6

VQSLOD
type: SiteQuality
SIO_000300: -1.142e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.134e0

MQRankSum
type: SiteQuality
SIO_000300: -6.889999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 8.31e-1

QD
type: SiteQuality
SIO_000300: 8.859999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 131
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variant carriers: 0

GenotypeQuality
all individuals: 1334
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5714
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7202
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8854
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9420
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.744470030004884e-5
allele num: 57324
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14008
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.331e0

QD
type: SiteQuality
SIO_000300: 9.56e0

MQRankSum
type: SiteQuality
SIO_000300: 1.4e0

MQ
type: SiteQuality
SIO_000300: 5.878e1

DP
type: SiteQuality
SIO_000300: 1.018337e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.65e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.372e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.72e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2710
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GenotypeQuality
all individuals: 868
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13988
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8822
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8938
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.120081411126187e-5
allele num: 47168
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5824
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.67e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.38e0

DP
type: SiteQuality
SIO_000300: 1.312629e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.865e1

MQRankSum
type: SiteQuality
SIO_000300: 3.77e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.12e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 19689
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GenotypeQuality
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GenotypeQuality
all individuals: 464
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GenotypeQuality
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GenotypeQuality
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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: 966
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GenotypeQuality
all individuals: 401
bin: 5.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 778
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6894
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.277972027972028e-4
allele num: 9152
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9258
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5940
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.035838243603196e-5
allele num: 49556
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14324
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.448156e6

MQRankSum
type: SiteQuality
SIO_000300: -1.876e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.22e-1

FS
type: SiteQuality
SIO_000300: 1.137e0

VQSLOD
type: SiteQuality
SIO_000300: 2.05e0

MQ
type: SiteQuality
SIO_000300: 5.27e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.73e-1

QD
type: SiteQuality
SIO_000300: 1.355e1

GenotypeQuality
all individuals: 2263
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variant carriers: 0

GenotypeQuality
all individuals: 8654
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variant carriers: 0

GenotypeQuality
all individuals: 206
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GenotypeQuality
all individuals: 6872
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GenotypeQuality
all individuals: 76
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29018
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 971
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.841620626151013e-5
allele num: 54300
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 828
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6184
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9646
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10128
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7596
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14888
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 6.43e-1

QD
type: SiteQuality
SIO_000300: 1.464e1

MQRankSum
type: SiteQuality
SIO_000300: -8.45e-1

DP
type: SiteQuality
SIO_000300: 1.571493e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.169999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.923e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.138e0

GenotypeQuality
all individuals: 2263
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 120
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variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 1.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6184
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9646
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14888
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 828
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10128
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.316482359136387e-4
allele num: 7596
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54300
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.78e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.45e-1

FS
type: SiteQuality
SIO_000300: 2.923e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.169999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

DP
type: SiteQuality
SIO_000300: 1.571493e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.138e0

VQSLOD
type: SiteQuality
SIO_000300: 6.43e-1

QD
type: SiteQuality
SIO_000300: 1.464e1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1228
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6366
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15350
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9946
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8072
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.28332714444857e-5
allele num: 10772
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58572
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.953e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.026e0

VQSLOD
type: SiteQuality
SIO_000300: 4.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

QD
type: SiteQuality
SIO_000300: 1.391e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.222e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.6e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.26e-1

FS
type: SiteQuality
SIO_000300: 3.899e0

DP
type: SiteQuality
SIO_000300: 1.647611e6

GenotypeQuality
all individuals: 106
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 364
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6396
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8142
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10002
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15446
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.68662506324844e-5
allele num: 59290
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10854
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.442e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.71e-1

FS
type: SiteQuality
SIO_000300: 9.993e0

QD
type: SiteQuality
SIO_000300: 1.062e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 4.86e0

MQRankSum
type: SiteQuality
SIO_000300: -2.39e-1

DP
type: SiteQuality
SIO_000300: 1.659249e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.36e-1

MQ
type: SiteQuality
SIO_000300: 5.877e1

GenotypeQuality
all individuals: 72
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 972
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61806
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11120
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6460
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15774
num of homozygotes: 0

East Asian
type: Population
allele count: 38
allele frequency: 4.55307931943446e-3
allele num: 8346
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10144
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.219e1

DP
type: SiteQuality
SIO_000300: 1.699844e6

BaseQRankSum
type: SiteQuality
SIO_000300: 8.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.81e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.21e0

FS
type: SiteQuality
SIO_000300: 4.417e0

MQRankSum
type: SiteQuality
SIO_000300: 1.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.7e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 352
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3

GenotypeQuality
all individuals: 1221
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3883
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11206
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15916
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10204
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8442
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.772662190970123e-5
allele num: 62858
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 2.71e-1

FS
type: SiteQuality
SIO_000300: 1.642e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.34e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.489e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.71e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.18e1

DP
type: SiteQuality
SIO_000300: 1.715516e6

GenotypeQuality
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variant carriers: 1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10218
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8456
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.583330694448843e-5
allele num: 63158
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11218
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15938
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.85e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.9e0

MQRankSum
type: SiteQuality
SIO_000300: 1.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.7e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.03e-1

QD
type: SiteQuality
SIO_000300: 4.62e0

DP
type: SiteQuality
SIO_000300: 1.720643e6

MQ
type: SiteQuality
SIO_000300: 6.033e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 7070
bin: 9.75e1
variant carriers: 207

South Asian
type: Population
allele count: 5
allele frequency: 3.117206982543641e-4
allele num: 16040
num of homozygotes: 0

East Asian
type: Population
allele count: 206
allele frequency: 2.421250587682182e-2
allele num: 8508
num of homozygotes: 2

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.563183892953167e-5
allele num: 63972
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10226
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6522
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.991e1

QD
type: SiteQuality
SIO_000300: 1.35e1

DP
type: SiteQuality
SIO_000300: 1.731752e6

VQSLOD
type: SiteQuality
SIO_000300: 4.75e0

MQRankSum
type: SiteQuality
SIO_000300: 1.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.71e0

FS
type: SiteQuality
SIO_000300: 5.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.33e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 80

GenotypeQuality
all individuals: 1189
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variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.801999607920016e-5
allele num: 10202
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16002
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.553028957186001e-4
allele num: 11258
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 75
allele frequency: 1.176359872012046e-3
allele num: 63756
num of homozygotes: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8482
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Other
type: Population
allele count: 1
allele frequency: 1.126126126126126e-3
allele num: 888
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.604051565377532e-4
allele num: 6516
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.55e-1

QD
type: SiteQuality
SIO_000300: 1.444e1

VQSLOD
type: SiteQuality
SIO_000300: 3.25e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.4e-2

FS
type: SiteQuality
SIO_000300: 3.974e0

DP
type: SiteQuality
SIO_000300: 1.713759e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.09e-1

MQ
type: SiteQuality
SIO_000300: 6.022e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.0e-1

GenotypeQuality
all individuals: 3777
bin: 6.75e1
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
all individuals: 1185
bin: 7.25e1
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GenotypeQuality
all individuals: 242
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10192
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6510
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.251562890722681e-5
allele num: 15996
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8476
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63586
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

FS
type: SiteQuality
SIO_000300: 2.913e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.342e0

MQ
type: SiteQuality
SIO_000300: 5.928e1

VQSLOD
type: SiteQuality
SIO_000300: -1.42e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.46e-1

QD
type: SiteQuality
SIO_000300: 2.357e1

MQRankSum
type: SiteQuality
SIO_000300: -1.89e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.9e-1

DP
type: SiteQuality
SIO_000300: 1.70872e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 5

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

African
type: Population
allele count: 4
allele frequency: 3.926187671770711e-4
allele num: 10188
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11252
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63572
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
type: Population
allele count: 1
allele frequency: 6.264094211976948e-5
allele num: 15964
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.128668171557562e-3
allele num: 886
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.62e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

FS
type: SiteQuality
SIO_000300: 1.318e0

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 4.09e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.0e-2

DP
type: SiteQuality
SIO_000300: 1.70356e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1205
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6520
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.145940164218077e-5
allele num: 63574
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10178
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15970
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.366e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.04e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.799999999999999e-2

QD
type: SiteQuality
SIO_000300: 1.242e1

DP
type: SiteQuality
SIO_000300: 1.702788e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.85e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.38e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.8e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 187

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 1
allele frequency: 1.131221719457014e-3
allele num: 884
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15970
num of homozygotes: 0

African
type: Population
allele count: 165
allele frequency: 1.621143643151896e-2
allele num: 10178
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.415673073898134e-4
allele num: 63574
num of homozygotes: 0

Latino
type: Population
allele count: 12
allele frequency: 1.067235859124867e-3
allele num: 11244
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6520
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.702788e6

FS
type: SiteQuality
SIO_000300: 1.366e0

VQSLOD
type: SiteQuality
SIO_000300: 4.38e0

MQRankSum
type: SiteQuality
SIO_000300: 2.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.04e-1

QD
type: SiteQuality
SIO_000300: 1.242e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.799999999999999e-2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 268
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GenotypeQuality
all individuals: 594
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63674
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.817396426467701e-5
allele num: 10186
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6520
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15998
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.9e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -5.044999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.44e-1

DP
type: SiteQuality
SIO_000300: 1.687039e6

QD
type: SiteQuality
SIO_000300: 1.06e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11230
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10160
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15962
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.154574132492114e-5
allele num: 63400
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.01e-1

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 8.51e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

QD
type: SiteQuality
SIO_000300: 1.521e1

GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.184553423359394e-4
allele num: 8442
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63304
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11218
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10162
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

South Asian
type: Population
allele count: 0
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allele num: 15954
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e0

DP
type: SiteQuality
SIO_000300: 1.62021e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -3.068e-1

MQ
type: SiteQuality
SIO_000300: 5.916e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.148e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.46e-1

QD
type: SiteQuality
SIO_000300: 1.162e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15946
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11210
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.581327682722414e-5
allele num: 63238
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10160
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6510
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8440
num of homozygotes: 0

Other
type: Population
allele count: 0
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allele num: 886
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BaseQRankSum
type: SiteQuality
SIO_000300: 5.76e-1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.418e1

FS
type: SiteQuality
SIO_000300: 1.834e0

MQRankSum
type: SiteQuality
SIO_000300: 1.52e-1

DP
type: SiteQuality
SIO_000300: 1.616032e6

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1475
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.897593219266896e-4
allele num: 63238
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10160
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15946
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11210
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6510
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8440
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.616032e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

FS
type: SiteQuality
SIO_000300: 1.834e0

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -7.69e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 351
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10122
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.593422352528761e-5
allele num: 62758
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15850
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11152
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8402
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6486
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.89e0

DP
type: SiteQuality
SIO_000300: 1.58374e6

QD
type: SiteQuality
SIO_000300: 1.18e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.703e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.21e0

MQRankSum
type: SiteQuality
SIO_000300: 1.49e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.595812587769692e-5
allele num: 62664
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6486
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10122
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15838
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8396
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.515e0

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

QD
type: SiteQuality
SIO_000300: 6.9e0

FS
type: SiteQuality
SIO_000300: 8.391999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

DP
type: SiteQuality
SIO_000300: 1.582963e6

MQ
type: SiteQuality
SIO_000300: 5.89e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.954e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.55e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.197e0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.203369434416366e-4
allele num: 8310
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62066
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11086
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10074
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15808
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -7.08e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.584677e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.55e-1

QD
type: SiteQuality
SIO_000300: 4.64e0

VQSLOD
type: SiteQuality
SIO_000300: -2.018e0

FS
type: SiteQuality
SIO_000300: 2.431e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.91e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 3

African
type: Population
allele count: 3
allele frequency: 2.998201079352388e-4
allele num: 10006
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6446
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8224
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10980
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61278
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15688
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.595546e6

QD
type: SiteQuality
SIO_000300: 1.391e1

MQ
type: SiteQuality
SIO_000300: 5.939e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.69e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.78e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.23e0

FS
type: SiteQuality
SIO_000300: 6.648e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.37e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8356
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.137397634212921e-4
allele num: 8792
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13510
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5804
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6242
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 712
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47562
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.66e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.788e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 8.220000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e0

DP
type: SiteQuality
SIO_000300: 1.3081e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.5e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5812
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6294
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8372
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 720
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8760
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.097931439600554e-5
allele num: 47666
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 8.76e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.82e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.2e-3

DP
type: SiteQuality
SIO_000300: 1.312339e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.46e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.44e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.85e0

GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6342
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5840
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.25123818099955e-4
allele num: 8884
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13556
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 47964
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8404
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ClippingRankSum
type: SiteQuality
SIO_000300: 4.42e-1

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -8.25e-1

InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.317994e6

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 720
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5844
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6386
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.075377718744811e-5
allele num: 48184
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8944
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.71e0

VQSLOD
type: SiteQuality
SIO_000300: 3.6e0

DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 720
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8952
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.336794e6

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 8212
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GenotypeQuality
all individuals: 411
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GenotypeQuality
all individuals: 130
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.334604664808566e-5
allele num: 13634
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5866
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 720
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6464
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.177301624676242e-4
allele num: 8494
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 48678
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.074e0

FS
type: SiteQuality
SIO_000300: 2.022e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.3e-2

VQSLOD
type: SiteQuality
SIO_000300: 8.9e-1

DP
type: SiteQuality
SIO_000300: 1.375424e6

MQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.209e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5922
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 736
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.503307276007216e-4
allele num: 6652
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 49674
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9180
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.26e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.9e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.024e0

FS
type: SiteQuality
SIO_000300: 1.4e0

MQ
type: SiteQuality
SIO_000300: 5.946e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

DP
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SIO_000300: 1.42252e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.96e-1

QD
type: SiteQuality
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 746
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5992
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8716
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50986
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6890
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9440
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.18803910293272e-5
allele num: 13912
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

QD
type: SiteQuality
SIO_000300: 7.54e0

BaseQRankSum
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SIO_000300: 2.79e0

VQSLOD
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SIO_000300: 1.06e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.889999999999999e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.471623e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.0e0

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: 6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14804
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6276
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10454
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 8.693535487011858e-5
allele num: 57514
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7986
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9348
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.210653753026634e-3
allele num: 826
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.12e0

MQRankSum
type: SiteQuality
SIO_000300: -2.49e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.629505e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.42e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.07e-1

QD
type: SiteQuality
SIO_000300: 1.5e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6310
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8098
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58494
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9460
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.665777896280495e-5
allele num: 15002
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.8e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.053e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.63e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.253e0

MQ
type: SiteQuality
SIO_000300: 5.983e1

QD
type: SiteQuality
SIO_000300: 1.375e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.52e0

DP
type: SiteQuality
SIO_000300: 1.647892e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.656012983141788e-5
allele num: 60386
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8290
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15258
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9640
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.288500835965076e-5
allele num: 10766
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6378
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.61e-1

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.681276e6

BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 3.59e-1

FS
type: SiteQuality
SIO_000300: 5.89e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.53e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 848
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10766
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6378
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9640
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60386
num of homozygotes: 0

East Asian
type: Population
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allele frequency: 2.41254523522316e-4
allele num: 8290
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

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

Other
type: Population
allele count: 1
allele frequency: 1.176470588235294e-3
allele num: 850
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South Asian
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African
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allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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QD
type: SiteQuality
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
allele num: 10944
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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African
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allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
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allele num: 15528
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QD
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
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MQ
type: SiteQuality
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VQSLOD
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DP
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
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
all individuals: 222
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.582178343142839e-5
allele num: 63204
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15720
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11068
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9928
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8500
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.78e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.71e-1

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
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SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 1.155e1

MQRankSum
type: SiteQuality
SIO_000300: -3.91e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.38e0

DP
type: SiteQuality
SIO_000300: 1.723602e6

FS
type: SiteQuality
SIO_000300: 2.197e0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11168
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15900
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8558
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.119832776963155e-5
allele num: 64106
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10070
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6480
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.6292e1

ReadPosRankSum
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BaseQRankSum
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SIO_000300: -5.8e-1

VQSLOD
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QD
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SIO_000300: 1.443e1

DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8558
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15900
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10070
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11168
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6480
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.559916388481577e-5
allele num: 64106
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.96e-1

VQSLOD
type: SiteQuality
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DP
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FS
type: SiteQuality
SIO_000300: 2.6292e1

ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -5.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

QD
type: SiteQuality
SIO_000300: 1.443e1

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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allele count: 1
allele frequency: 1.539882968894364e-4
allele num: 6494
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64508
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10126
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -1.97e-1

FS
type: SiteQuality
SIO_000300: 4.389e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 6.6e-2

QD
type: SiteQuality
SIO_000300: 1.277e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.29e-1

MQ
type: SiteQuality
SIO_000300: 5.87e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.24e-1

DP
type: SiteQuality
SIO_000300: 1.747476e6

GenotypeQuality
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variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11224
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64556
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15984
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8574
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.875567845151097e-5
allele num: 10126
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.341e0

MQRankSum
type: SiteQuality
SIO_000300: 9.72e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.17e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.01e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.56e-1

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

East Asian
type: Population
allele count: 1
allele frequency: 1.164144353899884e-4
allele num: 8590
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10162
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11254
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16036
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64824
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.02e0

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.073896471166851e-5
allele num: 65064
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8594
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6526
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
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MQ
type: SiteQuality
SIO_000300: 6.0e1

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

European (Non-Finnish)
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allele frequency: 3.070121576814442e-5
allele num: 65144
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South Asian
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Other
type: Population
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African
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allele frequency: 3.926187671770711e-4
allele num: 10188
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Latino
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allele frequency: 8.86053517632465e-5
allele num: 11286
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European (Finnish)
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East Asian
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allele count: 3
allele frequency: 3.490807540144287e-4
allele num: 8594
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
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MQ
type: SiteQuality
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DP
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QD
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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Latino
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allele frequency: 1.771165426850868e-4
allele num: 11292
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European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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European (Finnish)
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Other
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DP
type: SiteQuality
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FS
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VQSLOD
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QD
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InbreedingCoeff
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6552
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: 16196
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10250
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.818342151675486e-5
allele num: 11340
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65574
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.068e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.6e-2

QD
type: SiteQuality
SIO_000300: 6.38e0

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.909e1

DP
type: SiteQuality
SIO_000300: 1.769146e6

VQSLOD
type: SiteQuality
SIO_000300: -1.712e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 2.193e0

ClippingRankSum
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SIO_000300: -5.22e-1

GenotypeQuality
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variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11346
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10254
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.171315724512466e-5
allele num: 16204
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65604
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 9.07e-1

MQ
type: SiteQuality
SIO_000300: 5.951e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.4e0

DP
type: SiteQuality
SIO_000300: 1.769646e6

QD
type: SiteQuality
SIO_000300: 1.138e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.12e-1

FS
type: SiteQuality
SIO_000300: 4.058e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.94e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 140
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.802816901408451e-5
allele num: 11360
num of homozygotes: 0

African
type: Population
allele count: 10
allele frequency: 9.73141300116777e-4
allele num: 10276
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.044418059487929e-5
allele num: 65694
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16214
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.97e0

FS
type: SiteQuality
SIO_000300: 5.34e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.65e-1

DP
type: SiteQuality
SIO_000300: 1.772636e6

MQRankSum
type: SiteQuality
SIO_000300: 1.62e-1

MQ
type: SiteQuality
SIO_000300: 5.989e1

QD
type: SiteQuality
SIO_000300: 1.045e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.44e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.402e0

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

GenotypeQuality
all individuals: 221
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65806
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.721952167995334e-5
allele num: 10286
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11384
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.775312e6

MQ
type: SiteQuality
SIO_000300: 5.992e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.696e0

VQSLOD
type: SiteQuality
SIO_000300: 3.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.205e0

MQRankSum
type: SiteQuality
SIO_000300: -2.4e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.658e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.96e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16266
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10286
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.03960606705371e-5
allele num: 65798
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11384
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
SIO_000300: 1.52e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.69e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.909e1

FS
type: SiteQuality
SIO_000300: 4.534e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.38e0

VQSLOD
type: SiteQuality
SIO_000300: -4.262e-1

DP
type: SiteQuality
SIO_000300: 1.774957e6

QD
type: SiteQuality
SIO_000300: 1.262e1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10282
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11388
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.519756838905775e-5
allele num: 65800
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6562
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South Asian
type: Population
allele count: 0
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allele num: 16270
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VQSLOD
type: SiteQuality
SIO_000300: -9.473e-1

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.774729e6

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 9.108000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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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
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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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16236
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65710
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Other
type: Population
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allele num: 894
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
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allele frequency: 2.319647413593134e-4
allele num: 8622
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10284
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6558
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ReadPosRankSum
type: SiteQuality
SIO_000300: -3.97e-1

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

FS
type: SiteQuality
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VQSLOD
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QD
type: SiteQuality
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