19-5894841-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5894841
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5894841
    reference: chr 19
allele count: 3
allele frequency: 3.489102370263544e-5
allele num: 85982
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000466103
  ensembl transcript: ENST00000593233
  gene symbol: NDUFA11
  hgvsc: ENST00000593233.1:c.*350C>T
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000311740
  ensembl transcript: ENST00000308961
  gene symbol: NDUFA11
  hgvsc: ENST00000308961.4:c.338C>T
  hgvsp: ENSP00000311740.3:p.Ala113Val
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000466639
  ensembl transcript: ENST00000586349
  gene symbol: AC024592.12
  hgvsc: ENST00000586349.1:c.383+1623C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174886
  ensembl transcript: ENST00000591341
  gene symbol: NDUFA11
  hgvsc: ENST00000591341.1:n.254C>T
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130383
  ensembl protein: ENSP00000252675
  ensembl transcript: ENST00000252675
  gene symbol: FUT5
  hgvsc: ENST00000252675.5:c.-172+1623C>T
  variant of: http://identifiers.org/hgnc/4016
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000467210
  ensembl transcript: ENST00000585661
  gene symbol: AC024592.12
  hgvsc: ENST00000585661.1:c.308+1623C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000389160
  ensembl transcript: ENST00000418389
  gene symbol: NDUFA11
  hgvsc: ENST00000418389.2:c.314-1540C>T
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000467706
  ensembl transcript: ENST00000592634
  gene symbol: NDUFA11
  hgvsc: ENST00000592634.1:c.*1573C>T
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000465499
  ensembl transcript: ENST00000592091
  gene symbol: AC024592.12
  hgvsc: ENST00000592091.1:c.313+1623C>T
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16947
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16033
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8405
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2682
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12975
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25036
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2156
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1959
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala113Val
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

19-5894842-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5894842
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5894842
    reference: chr 19
allele count: 2
allele frequency: 2.376256445595609e-5
allele num: 84166
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000467706
  ensembl transcript: ENST00000592634
  gene symbol: NDUFA11
  hgvsc: ENST00000592634.1:c.*1572G>A
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000466639
  ensembl transcript: ENST00000586349
  gene symbol: AC024592.12
  hgvsc: ENST00000586349.1:c.383+1622G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000466103
  ensembl transcript: ENST00000593233
  gene symbol: NDUFA11
  hgvsc: ENST00000593233.1:c.*349G>A
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000465499
  ensembl transcript: ENST00000592091
  gene symbol: AC024592.12
  hgvsc: ENST00000592091.1:c.313+1622G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174886
  ensembl transcript: ENST00000591341
  gene symbol: NDUFA11
  hgvsc: ENST00000591341.1:n.253G>A
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000311740
  ensembl transcript: ENST00000308961
  gene symbol: NDUFA11
  hgvsc: ENST00000308961.4:c.337G>A
  hgvsp: ENSP00000311740.3:p.Ala113Thr
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000389160
  ensembl transcript: ENST00000418389
  gene symbol: NDUFA11
  hgvsc: ENST00000418389.2:c.314-1541G>A
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000467210
  ensembl transcript: ENST00000585661
  gene symbol: AC024592.12
  hgvsc: ENST00000585661.1:c.308+1622G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130383
  ensembl protein: ENSP00000252675
  ensembl transcript: ENST00000252675
  gene symbol: FUT5
  hgvsc: ENST00000252675.5:c.-172+1622G>A
  variant of: http://identifiers.org/hgnc/4016
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16555
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13582
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15908
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2812
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1535
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1619
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8061
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1198
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2052
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2018
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1678
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala113Thr
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

19-5894843-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5894843
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5894843
    reference: chr 19
allele count: 2
allele frequency: 2.377612401626287e-5
allele num: 84118
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000465499
  ensembl transcript: ENST00000592091
  gene symbol: AC024592.12
  hgvsc: ENST00000592091.1:c.313+1621C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000467210
  ensembl transcript: ENST00000585661
  gene symbol: AC024592.12
  hgvsc: ENST00000585661.1:c.308+1621C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000466639
  ensembl transcript: ENST00000586349
  gene symbol: AC024592.12
  hgvsc: ENST00000586349.1:c.383+1621C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000311740
  ensembl transcript: ENST00000308961
  gene symbol: NDUFA11
  hgvsc: ENST00000308961.4:c.336C>T
  hgvsp: ENST00000308961.4:c.336C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000466103
  ensembl transcript: ENST00000593233
  gene symbol: NDUFA11
  hgvsc: ENST00000593233.1:c.*348C>T
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130383
  ensembl protein: ENSP00000252675
  ensembl transcript: ENST00000252675
  gene symbol: FUT5
  hgvsc: ENST00000252675.5:c.-172+1621C>T
  variant of: http://identifiers.org/hgnc/4016
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174886
  ensembl transcript: ENST00000591341
  gene symbol: NDUFA11
  hgvsc: ENST00000591341.1:n.252C>T
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000467706
  ensembl transcript: ENST00000592634
  gene symbol: NDUFA11
  hgvsc: ENST00000592634.1:c.*1571C>T
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000389160
  ensembl transcript: ENST00000418389
  gene symbol: NDUFA11
  hgvsc: ENST00000418389.2:c.314-1542C>T
  variant of: http://identifiers.org/hgnc/20371
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8095
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15902
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16701
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2624
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13646
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1568
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1107
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2000
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala112Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP

19-5894844-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5894844
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5894844
    reference: chr 19
allele count: 1
allele frequency: 1.198293629871064e-5
allele num: 83452
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000465499
  ensembl transcript: ENST00000592091
  gene symbol: AC024592.12
  hgvsc: ENST00000592091.1:c.313+1620C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000311740
  ensembl transcript: ENST00000308961
  gene symbol: NDUFA11
  hgvsc: ENST00000308961.4:c.335C>T
  hgvsp: ENSP00000311740.3:p.Ala112Val
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000467210
  ensembl transcript: ENST00000585661
  gene symbol: AC024592.12
  hgvsc: ENST00000585661.1:c.308+1620C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000467706
  ensembl transcript: ENST00000592634
  gene symbol: NDUFA11
  hgvsc: ENST00000592634.1:c.*1570C>T
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174886
  ensembl transcript: ENST00000591341
  gene symbol: NDUFA11
  hgvsc: ENST00000591341.1:n.251C>T
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000466639
  ensembl transcript: ENST00000586349
  gene symbol: AC024592.12
  hgvsc: ENST00000586349.1:c.383+1620C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000466103
  ensembl transcript: ENST00000593233
  gene symbol: NDUFA11
  hgvsc: ENST00000593233.1:c.*347C>T
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000389160
  ensembl transcript: ENST00000418389
  gene symbol: NDUFA11
  hgvsc: ENST00000418389.2:c.314-1543C>T
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130383
  ensembl protein: ENSP00000252675
  ensembl transcript: ENST00000252675
  gene symbol: FUT5
  hgvsc: ENST00000252675.5:c.-172+1620C>T
  variant of: http://identifiers.org/hgnc/4016
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15363
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1542
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7891
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13986
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2615
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17064
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2018
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26739
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala112Val
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

19-5894845-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5894845
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5894845
    reference: chr 19
allele count: 14
allele frequency: 1.722992098850518e-4
allele num: 81254
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000467210
  ensembl transcript: ENST00000585661
  gene symbol: AC024592.12
  hgvsc: ENST00000585661.1:c.308+1619G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000467706
  ensembl transcript: ENST00000592634
  gene symbol: NDUFA11
  hgvsc: ENST00000592634.1:c.*1569G>A
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130383
  ensembl protein: ENSP00000252675
  ensembl transcript: ENST00000252675
  gene symbol: FUT5
  hgvsc: ENST00000252675.5:c.-172+1619G>A
  variant of: http://identifiers.org/hgnc/4016
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000311740
  ensembl transcript: ENST00000308961
  gene symbol: NDUFA11
  hgvsc: ENST00000308961.4:c.334G>A
  hgvsp: ENSP00000311740.3:p.Ala112Thr
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000465499
  ensembl transcript: ENST00000592091
  gene symbol: AC024592.12
  hgvsc: ENST00000592091.1:c.313+1619G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174886
  ensembl transcript: ENST00000591341
  gene symbol: NDUFA11
  hgvsc: ENST00000591341.1:n.250G>A
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000466639
  ensembl transcript: ENST00000586349
  gene symbol: AC024592.12
  hgvsc: ENST00000586349.1:c.383+1619G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000466103
  ensembl transcript: ENST00000593233
  gene symbol: NDUFA11
  hgvsc: ENST00000593233.1:c.*346G>A
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000389160
  ensembl transcript: ENST00000418389
  gene symbol: NDUFA11
  hgvsc: ENST00000418389.2:c.314-1544G>A
  variant of: http://identifiers.org/hgnc/20371
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2789
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1840
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14916
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13771
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17779
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7441
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1866
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1950
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala112Thr
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

19-5894846-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5894846
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5894846
    reference: chr 19
allele count: 3
allele frequency: 3.728004771846108e-5
allele num: 80472
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130383
  ensembl protein: ENSP00000252675
  ensembl transcript: ENST00000252675
  gene symbol: FUT5
  hgvsc: ENST00000252675.5:c.-172+1618C>T
  variant of: http://identifiers.org/hgnc/4016
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000311740
  ensembl transcript: ENST00000308961
  gene symbol: NDUFA11
  hgvsc: ENST00000308961.4:c.333C>T
  hgvsp: ENST00000308961.4:c.333C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174886
  ensembl transcript: ENST00000591341
  gene symbol: NDUFA11
  hgvsc: ENST00000591341.1:n.249C>T
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000467706
  ensembl transcript: ENST00000592634
  gene symbol: NDUFA11
  hgvsc: ENST00000592634.1:c.*1568C>T
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000466103
  ensembl transcript: ENST00000593233
  gene symbol: NDUFA11
  hgvsc: ENST00000593233.1:c.*345C>T
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000467210
  ensembl transcript: ENST00000585661
  gene symbol: AC024592.12
  hgvsc: ENST00000585661.1:c.308+1618C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000389160
  ensembl transcript: ENST00000418389
  gene symbol: NDUFA11
  hgvsc: ENST00000418389.2:c.314-1545C>T
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000466639
  ensembl transcript: ENST00000586349
  gene symbol: AC024592.12
  hgvsc: ENST00000586349.1:c.383+1618C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000465499
  ensembl transcript: ENST00000592091
  gene symbol: AC024592.12
  hgvsc: ENST00000592091.1:c.313+1618C>T
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17898
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13654
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14935
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2680
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7526
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28087
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 698
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gly111Gly
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum

http://identifiers.org/exac.variant/19-5894852-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5894852
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5894852
    reference: chr 19
allele count: 1
allele frequency: 1.30524447228966e-5
allele num: 76614
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130383
  ensembl protein: ENSP00000252675
  ensembl transcript: ENST00000252675
  gene symbol: FUT5
  hgvsc: ENST00000252675.5:c.-172+1612G>T
  variant of: http://identifiers.org/hgnc/4016
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000465499
  ensembl transcript: ENST00000592091
  gene symbol: AC024592.12
  hgvsc: ENST00000592091.1:c.313+1612G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000467210
  ensembl transcript: ENST00000585661
  gene symbol: AC024592.12
  hgvsc: ENST00000585661.1:c.308+1612G>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000311740
  ensembl transcript: ENST00000308961
  gene symbol: NDUFA11
  hgvsc: ENST00000308961.4:c.327G>T
  hgvsp: ENST00000308961.4:c.327G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000466639
  ensembl transcript: ENST00000586349
  gene symbol: AC024592.12
  hgvsc: ENST00000586349.1:c.383+1612G>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000466103
  ensembl transcript: ENST00000593233
  gene symbol: NDUFA11
  hgvsc: ENST00000593233.1:c.*339G>T
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000389160
  ensembl transcript: ENST00000418389
  gene symbol: NDUFA11
  hgvsc: ENST00000418389.2:c.314-1551G>T
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000467706
  ensembl transcript: ENST00000592634
  gene symbol: NDUFA11
  hgvsc: ENST00000592634.1:c.*1562G>T
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174886
  ensembl transcript: ENST00000591341
  gene symbol: NDUFA11
  hgvsc: ENST00000591341.1:n.243G>T
  variant of: http://identifiers.org/hgnc/20371
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2615
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19583
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6676
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16765
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10611
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2401
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2690
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31119
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1724
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly109Gly
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

19-5894852-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5894852
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5894852
    reference: chr 19
allele count: 1
allele frequency: 1.30524447228966e-5
allele num: 76614
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174886
  ensembl transcript: ENST00000591341
  gene symbol: NDUFA11
  hgvsc: ENST00000591341.1:n.243G>A
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000466103
  ensembl transcript: ENST00000593233
  gene symbol: NDUFA11
  hgvsc: ENST00000593233.1:c.*339G>A
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000467210
  ensembl transcript: ENST00000585661
  gene symbol: AC024592.12
  hgvsc: ENST00000585661.1:c.308+1612G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000465499
  ensembl transcript: ENST00000592091
  gene symbol: AC024592.12
  hgvsc: ENST00000592091.1:c.313+1612G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000467706
  ensembl transcript: ENST00000592634
  gene symbol: NDUFA11
  hgvsc: ENST00000592634.1:c.*1562G>A
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000466639
  ensembl transcript: ENST00000586349
  gene symbol: AC024592.12
  hgvsc: ENST00000586349.1:c.383+1612G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000389160
  ensembl transcript: ENST00000418389
  gene symbol: NDUFA11
  hgvsc: ENST00000418389.2:c.314-1551G>A
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000311740
  ensembl transcript: ENST00000308961
  gene symbol: NDUFA11
  hgvsc: ENST00000308961.4:c.327G>A
  hgvsp: ENST00000308961.4:c.327G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130383
  ensembl protein: ENSP00000252675
  ensembl transcript: ENST00000252675
  gene symbol: FUT5
  hgvsc: ENST00000252675.5:c.-172+1612G>A
  variant of: http://identifiers.org/hgnc/4016
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16765
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2401
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6676
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2615
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19583
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10611
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2206
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2690
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gly109Gly
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum

19-5894854-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5894854
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5894854
    reference: chr 19
allele count: 1
allele frequency: 1.375667198591317e-5
allele num: 72692
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000467210
  ensembl transcript: ENST00000585661
  gene symbol: AC024592.12
  hgvsc: ENST00000585661.1:c.308+1610G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174886
  ensembl transcript: ENST00000591341
  gene symbol: NDUFA11
  hgvsc: ENST00000591341.1:n.241G>A
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000466639
  ensembl transcript: ENST00000586349
  gene symbol: AC024592.12
  hgvsc: ENST00000586349.1:c.383+1610G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000466103
  ensembl transcript: ENST00000593233
  gene symbol: NDUFA11
  hgvsc: ENST00000593233.1:c.*337G>A
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000311740
  ensembl transcript: ENST00000308961
  gene symbol: NDUFA11
  hgvsc: ENST00000308961.4:c.325G>A
  hgvsp: ENSP00000311740.3:p.Gly109Arg
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000467706
  ensembl transcript: ENST00000592634
  gene symbol: NDUFA11
  hgvsc: ENST00000592634.1:c.*1560G>A
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130383
  ensembl protein: ENSP00000252675
  ensembl transcript: ENST00000252675
  gene symbol: FUT5
  hgvsc: ENST00000252675.5:c.-172+1610G>A
  variant of: http://identifiers.org/hgnc/4016
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000465499
  ensembl transcript: ENST00000592091
  gene symbol: AC024592.12
  hgvsc: ENST00000592091.1:c.313+1610G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000389160
  ensembl transcript: ENST00000418389
  gene symbol: NDUFA11
  hgvsc: ENST00000418389.2:c.314-1553G>A
  variant of: http://identifiers.org/hgnc/20371
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2946
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8669
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2779
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20661
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5835
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17809
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1247
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32278
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly109Arg
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS

19-5894855-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5894855
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5894855
    reference: chr 19
allele count: 3
allele frequency: 4.139529749420466e-5
allele num: 72472
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000466103
  ensembl transcript: ENST00000593233
  gene symbol: NDUFA11
  hgvsc: ENST00000593233.1:c.*336C>T
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000465499
  ensembl transcript: ENST00000592091
  gene symbol: AC024592.12
  hgvsc: ENST00000592091.1:c.313+1609C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000311740
  ensembl transcript: ENST00000308961
  gene symbol: NDUFA11
  hgvsc: ENST00000308961.4:c.324C>T
  hgvsp: ENST00000308961.4:c.324C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000389160
  ensembl transcript: ENST00000418389
  gene symbol: NDUFA11
  hgvsc: ENST00000418389.2:c.314-1554C>T
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130383
  ensembl protein: ENSP00000252675
  ensembl transcript: ENST00000252675
  gene symbol: FUT5
  hgvsc: ENST00000252675.5:c.-172+1609C>T
  variant of: http://identifiers.org/hgnc/4016
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000467706
  ensembl transcript: ENST00000592634
  gene symbol: NDUFA11
  hgvsc: ENST00000592634.1:c.*1559C>T
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000467210
  ensembl transcript: ENST00000585661
  gene symbol: AC024592.12
  hgvsc: ENST00000585661.1:c.308+1609C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000466639
  ensembl transcript: ENST00000586349
  gene symbol: AC024592.12
  hgvsc: ENST00000586349.1:c.383+1609C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174886
  ensembl transcript: ENST00000591341
  gene symbol: NDUFA11
  hgvsc: ENST00000591341.1:n.240C>T
  variant of: http://identifiers.org/hgnc/20371
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8683
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5846
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2971
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2636
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17779
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20840
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1117
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2293
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1521
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Tyr108Tyr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ

19-5894856-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5894856
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5894856
    reference: chr 19
allele count: 1
allele frequency: 1.377069046241978e-5
allele num: 72618
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000465499
  ensembl transcript: ENST00000592091
  gene symbol: AC024592.12
  hgvsc: ENST00000592091.1:c.313+1608A>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000466103
  ensembl transcript: ENST00000593233
  gene symbol: NDUFA11
  hgvsc: ENST00000593233.1:c.*335A>T
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000467706
  ensembl transcript: ENST00000592634
  gene symbol: NDUFA11
  hgvsc: ENST00000592634.1:c.*1558A>T
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000467210
  ensembl transcript: ENST00000585661
  gene symbol: AC024592.12
  hgvsc: ENST00000585661.1:c.308+1608A>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000389160
  ensembl transcript: ENST00000418389
  gene symbol: NDUFA11
  hgvsc: ENST00000418389.2:c.314-1555A>T
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000466639
  ensembl transcript: ENST00000586349
  gene symbol: AC024592.12
  hgvsc: ENST00000586349.1:c.383+1608A>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000311740
  ensembl transcript: ENST00000308961
  gene symbol: NDUFA11
  hgvsc: ENST00000308961.4:c.323A>T
  hgvsp: ENSP00000311740.3:p.Tyr108Phe
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174886
  ensembl transcript: ENST00000591341
  gene symbol: NDUFA11
  hgvsc: ENST00000591341.1:n.239A>T
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130383
  ensembl protein: ENSP00000252675
  ensembl transcript: ENST00000252675
  gene symbol: FUT5
  hgvsc: ENST00000252675.5:c.-172+1608A>T
  variant of: http://identifiers.org/hgnc/4016
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8712
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2476
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17790
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5824
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2987
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20989
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3120
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32986
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Tyr108Phe
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

19-5894864-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5894864
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5894864
    reference: chr 19
allele count: 3
allele frequency: 4.550280600637039e-5
allele num: 65930
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000174886
  ensembl transcript: ENST00000591341
  gene symbol: NDUFA11
  hgvsc: ENST00000591341.1:n.231G>A
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000467210
  ensembl transcript: ENST00000585661
  gene symbol: AC024592.12
  hgvsc: ENST00000585661.1:c.308+1600G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000467706
  ensembl transcript: ENST00000592634
  gene symbol: NDUFA11
  hgvsc: ENST00000592634.1:c.*1550G>A
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000311740
  ensembl transcript: ENST00000308961
  gene symbol: NDUFA11
  hgvsc: ENST00000308961.4:c.315G>A
  hgvsp: ENST00000308961.4:c.315G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000389160
  ensembl transcript: ENST00000418389
  gene symbol: NDUFA11
  hgvsc: ENST00000418389.2:c.314-1563G>A
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000465499
  ensembl transcript: ENST00000592091
  gene symbol: AC024592.12
  hgvsc: ENST00000592091.1:c.313+1600G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130383
  ensembl protein: ENSP00000252675
  ensembl transcript: ENST00000252675
  gene symbol: FUT5
  hgvsc: ENST00000252675.5:c.-172+1600G>A
  variant of: http://identifiers.org/hgnc/4016
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000466103
  ensembl transcript: ENST00000593233
  gene symbol: NDUFA11
  hgvsc: ENST00000593233.1:c.*327G>A
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000466639
  ensembl transcript: ENST00000586349
  gene symbol: AC024592.12
  hgvsc: ENST00000586349.1:c.383+1600G>A
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4676
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22378
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4457
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2457
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6295
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18580
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2304
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 854
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34023
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1327
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 9.75e1
  variant carriers: 2
hgvs: c.*327G>A
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP
site quality: ClippingRankSum

19-5894865-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5894865
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5894865
    reference: chr 19
allele count: 2
allele frequency: 3.073329645337759e-5
allele num: 65076
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130383
  ensembl protein: ENSP00000252675
  ensembl transcript: ENST00000252675
  gene symbol: FUT5
  hgvsc: ENST00000252675.5:c.-172+1599C>T
  variant of: http://identifiers.org/hgnc/4016
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000466639
  ensembl transcript: ENST00000586349
  gene symbol: AC024592.12
  hgvsc: ENST00000586349.1:c.383+1599C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000467210
  ensembl transcript: ENST00000585661
  gene symbol: AC024592.12
  hgvsc: ENST00000585661.1:c.308+1599C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000467706
  ensembl transcript: ENST00000592634
  gene symbol: NDUFA11
  hgvsc: ENST00000592634.1:c.*1549C>T
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000174886
  ensembl transcript: ENST00000591341
  gene symbol: NDUFA11
  hgvsc: ENST00000591341.1:n.230C>T
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000466103
  ensembl transcript: ENST00000593233
  gene symbol: NDUFA11
  hgvsc: ENST00000593233.1:c.*326C>T
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000311740
  ensembl transcript: ENST00000308961
  gene symbol: NDUFA11
  hgvsc: ENST00000308961.4:c.314C>T
  hgvsp: ENSP00000311740.3:p.Thr105Met
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000465499
  ensembl transcript: ENST00000592091
  gene symbol: AC024592.12
  hgvsc: ENST00000592091.1:c.313+1599C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000389160
  ensembl transcript: ENST00000418389
  gene symbol: NDUFA11
  hgvsc: ENST00000418389.2:c.314-1564C>T
  variant of: http://identifiers.org/hgnc/20371
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18634
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4690
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22711
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6014
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2289
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4567
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 887
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Thr105Met
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

19-5894871-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5894871
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5894871
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 58764
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000465499
  ensembl transcript: ENST00000592091
  gene symbol: AC024592.12
  hgvsc: ENST00000592091.1:c.313+1593C>T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000466103
  ensembl transcript: ENST00000593233
  gene symbol: NDUFA11
  hgvsc: ENST00000593233.1:c.*326-6C>T
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000466639
  ensembl transcript: ENST00000586349
  gene symbol: AC024592.12
  hgvsc: ENST00000586349.1:c.383+1593C>T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000311740
  ensembl transcript: ENST00000308961
  gene symbol: NDUFA11
  hgvsc: ENST00000308961.4:c.314-6C>T
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000467210
  ensembl transcript: ENST00000585661
  gene symbol: AC024592.12
  hgvsc: ENST00000585661.1:c.308+1593C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl transcript: ENST00000591341
  gene symbol: NDUFA11
  hgvsc: ENST00000591341.1:n.230-6C>T
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000467706
  ensembl transcript: ENST00000592634
  gene symbol: NDUFA11
  hgvsc: ENST00000592634.1:c.*1543C>T
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130383
  ensembl protein: ENSP00000252675
  ensembl transcript: ENST00000252675
  gene symbol: FUT5
  hgvsc: ENST00000252675.5:c.-172+1593C>T
  variant of: http://identifiers.org/hgnc/4016
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000389160
  ensembl transcript: ENST00000418389
  gene symbol: NDUFA11
  hgvsc: ENST00000418389.2:c.314-1570C>T
  variant of: http://identifiers.org/hgnc/20371
canonical: false
consequence: splice region
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18226
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4471
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2008
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6901
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3821
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23510
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2130
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3169
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1266
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7274
  bin: 7.5e0
  variant carriers: 0
hgvs: c.*326-6C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD

19-5894873-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5894873
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5894873
    reference: chr 19
allele count: 1
allele frequency: 1.706077046439417e-5
allele num: 58614
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000466103
  ensembl transcript: ENST00000593233
  gene symbol: NDUFA11
  hgvsc: ENST00000593233.1:c.*326-8T>A
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl transcript: ENST00000591341
  gene symbol: NDUFA11
  hgvsc: ENST00000591341.1:n.230-8T>A
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000311740
  ensembl transcript: ENST00000308961
  gene symbol: NDUFA11
  hgvsc: ENST00000308961.4:c.314-8T>A
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130383
  ensembl protein: ENSP00000252675
  ensembl transcript: ENST00000252675
  gene symbol: FUT5
  hgvsc: ENST00000252675.5:c.-172+1591T>A
  variant of: http://identifiers.org/hgnc/4016
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000467706
  ensembl transcript: ENST00000592634
  gene symbol: NDUFA11
  hgvsc: ENST00000592634.1:c.*1541T>A
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000467210
  ensembl transcript: ENST00000585661
  gene symbol: AC024592.12
  hgvsc: ENST00000585661.1:c.308+1591T>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000466639
  ensembl transcript: ENST00000586349
  gene symbol: AC024592.12
  hgvsc: ENST00000586349.1:c.383+1591T>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000465499
  ensembl transcript: ENST00000592091
  gene symbol: AC024592.12
  hgvsc: ENST00000592091.1:c.313+1591T>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000389160
  ensembl transcript: ENST00000418389
  gene symbol: NDUFA11
  hgvsc: ENST00000418389.2:c.314-1572T>A
  variant of: http://identifiers.org/hgnc/20371
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3805
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4491
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23762
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1815
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6989
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3134
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 778
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7342
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1209
  bin: 1.25e1
  variant carriers: 0
hgvs: c.*326-8T>A
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

19-5894875-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5894875
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5894875
    reference: chr 19
allele count: 1
allele frequency: 1.753709094735365e-5
allele num: 57022
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000311740
  ensembl transcript: ENST00000308961
  gene symbol: NDUFA11
  hgvsc: ENST00000308961.4:c.314-10A>T
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130383
  ensembl protein: ENSP00000252675
  ensembl transcript: ENST00000252675
  gene symbol: FUT5
  hgvsc: ENST00000252675.5:c.-172+1589A>T
  variant of: http://identifiers.org/hgnc/4016
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000467210
  ensembl transcript: ENST00000585661
  gene symbol: AC024592.12
  hgvsc: ENST00000585661.1:c.308+1589A>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000389160
  ensembl transcript: ENST00000418389
  gene symbol: NDUFA11
  hgvsc: ENST00000418389.2:c.314-1574A>T
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000467706
  ensembl transcript: ENST00000592634
  gene symbol: NDUFA11
  hgvsc: ENST00000592634.1:c.*1539A>T
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl transcript: ENST00000591341
  gene symbol: NDUFA11
  hgvsc: ENST00000591341.1:n.230-10A>T
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000466639
  ensembl transcript: ENST00000586349
  gene symbol: AC024592.12
  hgvsc: ENST00000586349.1:c.383+1589A>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000465499
  ensembl transcript: ENST00000592091
  gene symbol: AC024592.12
  hgvsc: ENST00000592091.1:c.313+1589A>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000466103
  ensembl transcript: ENST00000593233
  gene symbol: NDUFA11
  hgvsc: ENST00000593233.1:c.*326-10A>T
  variant of: http://identifiers.org/hgnc/20371
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4223
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17896
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23912
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7530
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3643
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1757
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7929
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3097
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: European (Finnish)
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

19-5894876-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5894876
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5894876
    reference: chr 19
allele count: 1
allele frequency: 1.773364071643909e-5
allele num: 56390
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000466639
  ensembl transcript: ENST00000586349
  gene symbol: AC024592.12
  hgvsc: ENST00000586349.1:c.383+1588C>G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000467706
  ensembl transcript: ENST00000592634
  gene symbol: NDUFA11
  hgvsc: ENST00000592634.1:c.*1538C>G
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000465499
  ensembl transcript: ENST00000592091
  gene symbol: AC024592.12
  hgvsc: ENST00000592091.1:c.313+1588C>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000466103
  ensembl transcript: ENST00000593233
  gene symbol: NDUFA11
  hgvsc: ENST00000593233.1:c.*326-11C>G
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000389160
  ensembl transcript: ENST00000418389
  gene symbol: NDUFA11
  hgvsc: ENST00000418389.2:c.314-1575C>G
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000467210
  ensembl transcript: ENST00000585661
  gene symbol: AC024592.12
  hgvsc: ENST00000585661.1:c.308+1588C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl transcript: ENST00000591341
  gene symbol: NDUFA11
  hgvsc: ENST00000591341.1:n.230-11C>G
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130383
  ensembl protein: ENSP00000252675
  ensembl transcript: ENST00000252675
  gene symbol: FUT5
  hgvsc: ENST00000252675.5:c.-172+1588C>G
  variant of: http://identifiers.org/hgnc/4016
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000311740
  ensembl transcript: ENST00000308961
  gene symbol: NDUFA11
  hgvsc: ENST00000308961.4:c.314-11C>G
  variant of: http://identifiers.org/hgnc/20371
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17843
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4110
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3590
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7801
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23895
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1151
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1523
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8260
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

19-5894876-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5894876
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5894876
    reference: chr 19
allele count: 2
allele frequency: 3.546728143287817e-5
allele num: 56390
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000389160
  ensembl transcript: ENST00000418389
  gene symbol: NDUFA11
  hgvsc: ENST00000418389.2:c.314-1575C>A
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000466103
  ensembl transcript: ENST00000593233
  gene symbol: NDUFA11
  hgvsc: ENST00000593233.1:c.*326-11C>A
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000467706
  ensembl transcript: ENST00000592634
  gene symbol: NDUFA11
  hgvsc: ENST00000592634.1:c.*1538C>A
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl transcript: ENST00000591341
  gene symbol: NDUFA11
  hgvsc: ENST00000591341.1:n.230-11C>A
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000311740
  ensembl transcript: ENST00000308961
  gene symbol: NDUFA11
  hgvsc: ENST00000308961.4:c.314-11C>A
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000466639
  ensembl transcript: ENST00000586349
  gene symbol: AC024592.12
  hgvsc: ENST00000586349.1:c.383+1588C>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130383
  ensembl protein: ENSP00000252675
  ensembl transcript: ENST00000252675
  gene symbol: FUT5
  hgvsc: ENST00000252675.5:c.-172+1588C>A
  variant of: http://identifiers.org/hgnc/4016
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000465499
  ensembl transcript: ENST00000592091
  gene symbol: AC024592.12
  hgvsc: ENST00000592091.1:c.313+1588C>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000467210
  ensembl transcript: ENST00000585661
  gene symbol: AC024592.12
  hgvsc: ENST00000585661.1:c.308+1588C>A
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4110
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23895
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3590
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17843
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7801
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8260
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3092
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1341
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

19-5894884-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5894884
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5894884
    reference: chr 19
allele count: 1
allele frequency: 2.018082014853084e-5
allele num: 49552
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000311740
  ensembl transcript: ENST00000308961
  gene symbol: NDUFA11
  hgvsc: ENST00000308961.4:c.314-19C>T
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130383
  ensembl protein: ENSP00000252675
  ensembl transcript: ENST00000252675
  gene symbol: FUT5
  hgvsc: ENST00000252675.5:c.-172+1580C>T
  variant of: http://identifiers.org/hgnc/4016
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl transcript: ENST00000591341
  gene symbol: NDUFA11
  hgvsc: ENST00000591341.1:n.230-19C>T
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000466103
  ensembl transcript: ENST00000593233
  gene symbol: NDUFA11
  hgvsc: ENST00000593233.1:c.*326-19C>T
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000467706
  ensembl transcript: ENST00000592634
  gene symbol: NDUFA11
  hgvsc: ENST00000592634.1:c.*1530C>T
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000466639
  ensembl transcript: ENST00000586349
  gene symbol: AC024592.12
  hgvsc: ENST00000586349.1:c.383+1580C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000467210
  ensembl transcript: ENST00000585661
  gene symbol: AC024592.12
  hgvsc: ENST00000585661.1:c.308+1580C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000389160
  ensembl transcript: ENST00000418389
  gene symbol: NDUFA11
  hgvsc: ENST00000418389.2:c.313+1580C>T
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000465499
  ensembl transcript: ENST00000592091
  gene symbol: AC024592.12
  hgvsc: ENST00000592091.1:c.313+1580C>T
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23604
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2869
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16716
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11253
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2854
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1616
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30838
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

19-5894886-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5894886
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5894886
    reference: chr 19
allele count: 1
allele frequency: 2.100928610445817e-5
allele num: 47598
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000467706
  ensembl transcript: ENST00000592634
  gene symbol: NDUFA11
  hgvsc: ENST00000592634.1:c.*1528A>G
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000389160
  ensembl transcript: ENST00000418389
  gene symbol: NDUFA11
  hgvsc: ENST00000418389.2:c.313+1578A>G
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl transcript: ENST00000591341
  gene symbol: NDUFA11
  hgvsc: ENST00000591341.1:n.230-21A>G
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000466639
  ensembl transcript: ENST00000586349
  gene symbol: AC024592.12
  hgvsc: ENST00000586349.1:c.383+1578A>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130383
  ensembl protein: ENSP00000252675
  ensembl transcript: ENST00000252675
  gene symbol: FUT5
  hgvsc: ENST00000252675.5:c.-172+1578A>G
  variant of: http://identifiers.org/hgnc/4016
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000311740
  ensembl transcript: ENST00000308961
  gene symbol: NDUFA11
  hgvsc: ENST00000308961.4:c.314-21A>G
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000467210
  ensembl transcript: ENST00000585661
  gene symbol: AC024592.12
  hgvsc: ENST00000585661.1:c.308+1578A>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000466103
  ensembl transcript: ENST00000593233
  gene symbol: NDUFA11
  hgvsc: ENST00000593233.1:c.*326-21A>G
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000465499
  ensembl transcript: ENST00000592091
  gene symbol: AC024592.12
  hgvsc: ENST00000592091.1:c.313+1578A>G
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2531
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12352
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16201
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2573
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23506
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2397
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29430
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2934
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2132
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

19-5894895-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5894895
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5894895
    reference: chr 19
allele count: 4
allele frequency: 9.973570039395601e-5
allele num: 40106
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000467706
  ensembl transcript: ENST00000592634
  gene symbol: NDUFA11
  hgvsc: ENST00000592634.1:c.*1519G>A
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000311740
  ensembl transcript: ENST00000308961
  gene symbol: NDUFA11
  hgvsc: ENST00000308961.4:c.314-30G>A
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000389160
  ensembl transcript: ENST00000418389
  gene symbol: NDUFA11
  hgvsc: ENST00000418389.2:c.313+1569G>A
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000466103
  ensembl transcript: ENST00000593233
  gene symbol: NDUFA11
  hgvsc: ENST00000593233.1:c.*326-30G>A
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl transcript: ENST00000591341
  gene symbol: NDUFA11
  hgvsc: ENST00000591341.1:n.230-30G>A
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000466639
  ensembl transcript: ENST00000586349
  gene symbol: AC024592.12
  hgvsc: ENST00000586349.1:c.383+1569G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000467210
  ensembl transcript: ENST00000585661
  gene symbol: AC024592.12
  hgvsc: ENST00000585661.1:c.308+1569G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000465499
  ensembl transcript: ENST00000592091
  gene symbol: AC024592.12
  hgvsc: ENST00000592091.1:c.313+1569G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130383
  ensembl protein: ENSP00000252675
  ensembl transcript: ENST00000252675
  gene symbol: FUT5
  hgvsc: ENST00000252675.5:c.-172+1569G>A
  variant of: http://identifiers.org/hgnc/4016
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13965
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1803
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23576
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1768
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15663
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2071
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 730
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3711
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25323
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

19-5894896-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5894896
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5894896
    reference: chr 19
allele count: 2
allele frequency: 5.100999795960008e-5
allele num: 39208
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000466103
  ensembl transcript: ENST00000593233
  gene symbol: NDUFA11
  hgvsc: ENST00000593233.1:c.*326-31C>T
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130383
  ensembl protein: ENSP00000252675
  ensembl transcript: ENST00000252675
  gene symbol: FUT5
  hgvsc: ENST00000252675.5:c.-172+1568C>T
  variant of: http://identifiers.org/hgnc/4016
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000311740
  ensembl transcript: ENST00000308961
  gene symbol: NDUFA11
  hgvsc: ENST00000308961.4:c.314-31C>T
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000465499
  ensembl transcript: ENST00000592091
  gene symbol: AC024592.12
  hgvsc: ENST00000592091.1:c.313+1568C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000467706
  ensembl transcript: ENST00000592634
  gene symbol: NDUFA11
  hgvsc: ENST00000592634.1:c.*1518C>T
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000467210
  ensembl transcript: ENST00000585661
  gene symbol: AC024592.12
  hgvsc: ENST00000585661.1:c.308+1568C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000466639
  ensembl transcript: ENST00000586349
  gene symbol: AC024592.12
  hgvsc: ENST00000586349.1:c.383+1568C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000389160
  ensembl transcript: ENST00000418389
  gene symbol: NDUFA11
  hgvsc: ENST00000418389.2:c.313+1568C>T
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl transcript: ENST00000591341
  gene symbol: NDUFA11
  hgvsc: ENST00000591341.1:n.230-31C>T
  variant of: http://identifiers.org/hgnc/20371
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16107
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13672
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23523
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1845
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2781
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1171
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2812
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24695
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

19-5894898-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5894898
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5894898
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 35692
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000389160
  ensembl transcript: ENST00000418389
  gene symbol: NDUFA11
  hgvsc: ENST00000418389.2:c.313+1566C>G
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl transcript: ENST00000591341
  gene symbol: NDUFA11
  hgvsc: ENST00000591341.1:n.230-33C>G
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000466639
  ensembl transcript: ENST00000586349
  gene symbol: AC024592.12
  hgvsc: ENST00000586349.1:c.383+1566C>G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000467706
  ensembl transcript: ENST00000592634
  gene symbol: NDUFA11
  hgvsc: ENST00000592634.1:c.*1516C>G
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130383
  ensembl protein: ENSP00000252675
  ensembl transcript: ENST00000252675
  gene symbol: FUT5
  hgvsc: ENST00000252675.5:c.-172+1566C>G
  variant of: http://identifiers.org/hgnc/4016
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000467210
  ensembl transcript: ENST00000585661
  gene symbol: AC024592.12
  hgvsc: ENST00000585661.1:c.308+1566C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000311740
  ensembl transcript: ENST00000308961
  gene symbol: NDUFA11
  hgvsc: ENST00000308961.4:c.314-33C>G
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000465499
  ensembl transcript: ENST00000592091
  gene symbol: AC024592.12
  hgvsc: ENST00000592091.1:c.313+1566C>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000466103
  ensembl transcript: ENST00000593233
  gene symbol: NDUFA11
  hgvsc: ENST00000593233.1:c.*326-33C>G
  variant of: http://identifiers.org/hgnc/20371
canonical: false
consequence: 3' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17509
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23603
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1677
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12262
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1286
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2587
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 893
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2179
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQRankSum

19-5894907-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5894907
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5894907
    reference: chr 19
allele count: 3
allele frequency: 1.04704732653916e-4
allele num: 28652
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000466639
  ensembl transcript: ENST00000586349
  gene symbol: AC024592.12
  hgvsc: ENST00000586349.1:c.383+1557C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl transcript: ENST00000591341
  gene symbol: NDUFA11
  hgvsc: ENST00000591341.1:n.230-42C>T
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000389160
  ensembl transcript: ENST00000418389
  gene symbol: NDUFA11
  hgvsc: ENST00000418389.2:c.313+1557C>T
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000465499
  ensembl transcript: ENST00000592091
  gene symbol: AC024592.12
  hgvsc: ENST00000592091.1:c.313+1557C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130383
  ensembl protein: ENSP00000252675
  ensembl transcript: ENST00000252675
  gene symbol: FUT5
  hgvsc: ENST00000252675.5:c.-172+1557C>T
  variant of: http://identifiers.org/hgnc/4016
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000311740
  ensembl transcript: ENST00000308961
  gene symbol: NDUFA11
  hgvsc: ENST00000308961.4:c.314-42C>T
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000467706
  ensembl transcript: ENST00000592634
  gene symbol: NDUFA11
  hgvsc: ENST00000592634.1:c.*1507C>T
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000467210
  ensembl transcript: ENST00000585661
  gene symbol: AC024592.12
  hgvsc: ENST00000585661.1:c.308+1557C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000466103
  ensembl transcript: ENST00000593233
  gene symbol: NDUFA11
  hgvsc: ENST00000593233.1:c.*326-42C>T
  variant of: http://identifiers.org/hgnc/20371
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18605
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25694
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2390
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9073
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2135
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5380
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2179
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1618
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/19-5894910-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5894910
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5894910
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 25744
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000467706
  ensembl transcript: ENST00000592634
  gene symbol: NDUFA11
  hgvsc: ENST00000592634.1:c.*1504G>T
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000467210
  ensembl transcript: ENST00000585661
  gene symbol: AC024592.12
  hgvsc: ENST00000585661.1:c.308+1554G>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130383
  ensembl protein: ENSP00000252675
  ensembl transcript: ENST00000252675
  gene symbol: FUT5
  hgvsc: ENST00000252675.5:c.-172+1554G>T
  variant of: http://identifiers.org/hgnc/4016
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000466639
  ensembl transcript: ENST00000586349
  gene symbol: AC024592.12
  hgvsc: ENST00000586349.1:c.383+1554G>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000465499
  ensembl transcript: ENST00000592091
  gene symbol: AC024592.12
  hgvsc: ENST00000592091.1:c.313+1554G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000311740
  ensembl transcript: ENST00000308961
  gene symbol: NDUFA11
  hgvsc: ENST00000308961.4:c.314-45G>T
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000389160
  ensembl transcript: ENST00000418389
  gene symbol: NDUFA11
  hgvsc: ENST00000418389.2:c.313+1554G>T
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000466103
  ensembl transcript: ENST00000593233
  gene symbol: NDUFA11
  hgvsc: ENST00000593233.1:c.*326-45G>T
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl transcript: ENST00000591341
  gene symbol: NDUFA11
  hgvsc: ENST00000591341.1:n.230-45G>T
  variant of: http://identifiers.org/hgnc/20371
canonical: false
consequence: 3' UTR
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 7944
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26593
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2252
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18715
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1040
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8085
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3229
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

19-5894910-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5894910
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5894910
    reference: chr 19
allele count: 3
allele frequency: 1.165320074580485e-4
allele num: 25744
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000389160
  ensembl transcript: ENST00000418389
  gene symbol: NDUFA11
  hgvsc: ENST00000418389.2:c.313+1554G>A
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000466639
  ensembl transcript: ENST00000586349
  gene symbol: AC024592.12
  hgvsc: ENST00000586349.1:c.383+1554G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000311740
  ensembl transcript: ENST00000308961
  gene symbol: NDUFA11
  hgvsc: ENST00000308961.4:c.314-45G>A
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000466103
  ensembl transcript: ENST00000593233
  gene symbol: NDUFA11
  hgvsc: ENST00000593233.1:c.*326-45G>A
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000467706
  ensembl transcript: ENST00000592634
  gene symbol: NDUFA11
  hgvsc: ENST00000592634.1:c.*1504G>A
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl transcript: ENST00000591341
  gene symbol: NDUFA11
  hgvsc: ENST00000591341.1:n.230-45G>A
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000467210
  ensembl transcript: ENST00000585661
  gene symbol: AC024592.12
  hgvsc: ENST00000585661.1:c.308+1554G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130383
  ensembl protein: ENSP00000252675
  ensembl transcript: ENST00000252675
  gene symbol: FUT5
  hgvsc: ENST00000252675.5:c.-172+1554G>A
  variant of: http://identifiers.org/hgnc/4016
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000465499
  ensembl transcript: ENST00000592091
  gene symbol: AC024592.12
  hgvsc: ENST00000592091.1:c.313+1554G>A
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26593
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18715
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7944
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2252
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8085
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7855
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2214
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ

19-5894915-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5894915
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5894915
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 24162
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000465499
  ensembl transcript: ENST00000592091
  gene symbol: AC024592.12
  hgvsc: ENST00000592091.1:c.313+1549G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000467210
  ensembl transcript: ENST00000585661
  gene symbol: AC024592.12
  hgvsc: ENST00000585661.1:c.308+1549G>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000389160
  ensembl transcript: ENST00000418389
  gene symbol: NDUFA11
  hgvsc: ENST00000418389.2:c.313+1549G>C
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130383
  ensembl protein: ENSP00000252675
  ensembl transcript: ENST00000252675
  gene symbol: FUT5
  hgvsc: ENST00000252675.5:c.-172+1549G>C
  variant of: http://identifiers.org/hgnc/4016
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000467706
  ensembl transcript: ENST00000592634
  gene symbol: NDUFA11
  hgvsc: ENST00000592634.1:c.*1499G>C
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000466103
  ensembl transcript: ENST00000593233
  gene symbol: NDUFA11
  hgvsc: ENST00000593233.1:c.*326-50G>C
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000311740
  ensembl transcript: ENST00000308961
  gene symbol: NDUFA11
  hgvsc: ENST00000308961.4:c.314-50G>C
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000466639
  ensembl transcript: ENST00000586349
  gene symbol: AC024592.12
  hgvsc: ENST00000586349.1:c.383+1549G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl transcript: ENST00000591341
  gene symbol: NDUFA11
  hgvsc: ENST00000591341.1:n.230-50G>C
  variant of: http://identifiers.org/hgnc/20371
canonical: false
consequence: 3' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7699
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26841
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18795
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10257
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

19-5896391-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5896391
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5896391
    reference: chr 19
allele count: 1
allele frequency: 1.354279523293608e-4
allele num: 7384
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000467706
  ensembl transcript: ENST00000592634
  gene symbol: NDUFA11
  hgvsc: ENST00000592634.1:c.*23C>T
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000466639
  ensembl transcript: ENST00000586349
  gene symbol: AC024592.12
  hgvsc: ENST00000586349.1:c.383+73C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130383
  ensembl protein: ENSP00000252675
  ensembl transcript: ENST00000252675
  gene symbol: FUT5
  hgvsc: ENST00000252675.5:c.-172+73C>T
  variant of: http://identifiers.org/hgnc/4016
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000311740
  ensembl transcript: ENST00000308961
  gene symbol: NDUFA11
  hgvsc: ENST00000308961.4:c.313+73C>T
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000389160
  ensembl transcript: ENST00000418389
  gene symbol: NDUFA11
  hgvsc: ENST00000418389.2:c.313+73C>T
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000466103
  ensembl transcript: ENST00000593233
  gene symbol: NDUFA11
  hgvsc: ENST00000593233.1:c.*325+73C>T
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000465499
  ensembl transcript: ENST00000592091
  gene symbol: AC024592.12
  hgvsc: ENST00000592091.1:c.313+73C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000467210
  ensembl transcript: ENST00000585661
  gene symbol: AC024592.12
  hgvsc: ENST00000585661.1:c.308+73C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl transcript: ENST00000591341
  gene symbol: NDUFA11
  hgvsc: ENST00000591341.1:n.229+73C>T
  variant of: http://identifiers.org/hgnc/20371
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14783
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2755
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33324
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11597
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 6.25e1
  variant carriers: 2
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

19-5896394-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5896394
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5896394
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 7658
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000466639
  ensembl transcript: ENST00000586349
  gene symbol: AC024592.12
  hgvsc: ENST00000586349.1:c.383+70C>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130383
  ensembl protein: ENSP00000252675
  ensembl transcript: ENST00000252675
  gene symbol: FUT5
  hgvsc: ENST00000252675.5:c.-172+70C>G
  variant of: http://identifiers.org/hgnc/4016
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000389160
  ensembl transcript: ENST00000418389
  gene symbol: NDUFA11
  hgvsc: ENST00000418389.2:c.313+70C>G
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000467210
  ensembl transcript: ENST00000585661
  gene symbol: AC024592.12
  hgvsc: ENST00000585661.1:c.308+70C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000311740
  ensembl transcript: ENST00000308961
  gene symbol: NDUFA11
  hgvsc: ENST00000308961.4:c.313+70C>G
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000465499
  ensembl transcript: ENST00000592091
  gene symbol: AC024592.12
  hgvsc: ENST00000592091.1:c.313+70C>G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000467706
  ensembl transcript: ENST00000592634
  gene symbol: NDUFA11
  hgvsc: ENST00000592634.1:c.*20C>G
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000466103
  ensembl transcript: ENST00000593233
  gene symbol: NDUFA11
  hgvsc: ENST00000593233.1:c.*325+70C>G
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl transcript: ENST00000591341
  gene symbol: NDUFA11
  hgvsc: ENST00000591341.1:n.229+70C>G
  variant of: http://identifiers.org/hgnc/20371
canonical: false
consequence: 3' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33083
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15081
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2793
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12045
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3143
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2461
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD

19-5896435-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5896435
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5896435
    reference: chr 19
allele count: 4
allele frequency: 2.614379084967321e-4
allele num: 15300
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000465499
  ensembl transcript: ENST00000592091
  gene symbol: AC024592.12
  hgvsc: ENST00000592091.1:c.313+29T>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000466103
  ensembl transcript: ENST00000593233
  gene symbol: NDUFA11
  hgvsc: ENST00000593233.1:c.*325+29T>C
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000389160
  ensembl transcript: ENST00000418389
  gene symbol: NDUFA11
  hgvsc: ENST00000418389.2:c.313+29T>C
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000466639
  ensembl transcript: ENST00000586349
  gene symbol: AC024592.12
  hgvsc: ENST00000586349.1:c.383+29T>C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000467706
  ensembl transcript: ENST00000592634
  gene symbol: NDUFA11
  hgvsc: ENST00000592634.1:c.342T>C
  hgvsp: ENST00000592634.1:c.342T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130383
  ensembl protein: ENSP00000252675
  ensembl transcript: ENST00000252675
  gene symbol: FUT5
  hgvsc: ENST00000252675.5:c.-172+29T>C
  variant of: http://identifiers.org/hgnc/4016
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl transcript: ENST00000591341
  gene symbol: NDUFA11
  hgvsc: ENST00000591341.1:n.229+29T>C
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000311740
  ensembl transcript: ENST00000308961
  gene symbol: NDUFA11
  hgvsc: ENST00000308961.4:c.313+29T>C
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000467210
  ensembl transcript: ENST00000585661
  gene symbol: AC024592.12
  hgvsc: ENST00000585661.1:c.308+29T>C
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3357
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18215
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4866
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25842
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3052
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2275
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2415
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 756
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro114Pro
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

19-5896436-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5896436
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5896436
    reference: chr 19
allele count: 1
allele frequency: 4.537205081669691e-5
allele num: 22040
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000389160
  ensembl transcript: ENST00000418389
  gene symbol: NDUFA11
  hgvsc: ENST00000418389.2:c.313+28C>T
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000466639
  ensembl transcript: ENST00000586349
  gene symbol: AC024592.12
  hgvsc: ENST00000586349.1:c.383+28C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130383
  ensembl protein: ENSP00000252675
  ensembl transcript: ENST00000252675
  gene symbol: FUT5
  hgvsc: ENST00000252675.5:c.-172+28C>T
  variant of: http://identifiers.org/hgnc/4016
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000465499
  ensembl transcript: ENST00000592091
  gene symbol: AC024592.12
  hgvsc: ENST00000592091.1:c.313+28C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl transcript: ENST00000591341
  gene symbol: NDUFA11
  hgvsc: ENST00000591341.1:n.229+28C>T
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000466103
  ensembl transcript: ENST00000593233
  gene symbol: NDUFA11
  hgvsc: ENST00000593233.1:c.*325+28C>T
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000467210
  ensembl transcript: ENST00000585661
  gene symbol: AC024592.12
  hgvsc: ENST00000585661.1:c.308+28C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000311740
  ensembl transcript: ENST00000308961
  gene symbol: NDUFA11
  hgvsc: ENST00000308961.4:c.313+28C>T
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000467706
  ensembl transcript: ENST00000592634
  gene symbol: NDUFA11
  hgvsc: ENST00000592634.1:c.341C>T
  hgvsp: ENSP00000467706.1:p.Pro114Leu
  variant of: http://identifiers.org/hgnc/20371
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5061
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25877
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3478
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3242
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4167
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro114Leu
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

19-5896439-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5896439
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5896438
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 15554
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl transcript: ENST00000591341
  gene symbol: NDUFA11
  hgvsc: ENST00000591341.1:n.229+24delC
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000465499
  ensembl transcript: ENST00000592091
  gene symbol: AC024592.12
  hgvsc: ENST00000592091.1:c.313+24delC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000311740
  ensembl transcript: ENST00000308961
  gene symbol: NDUFA11
  hgvsc: ENST00000308961.4:c.313+24delC
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000467210
  ensembl transcript: ENST00000585661
  gene symbol: AC024592.12
  hgvsc: ENST00000585661.1:c.308+24delC
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000467706
  ensembl transcript: ENST00000592634
  gene symbol: NDUFA11
  hgvsc: ENST00000592634.1:c.337delC
  hgvsp: ENSP00000467706.1:p.His113ThrfsTer11
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000466639
  ensembl transcript: ENST00000586349
  gene symbol: AC024592.12
  hgvsc: ENST00000586349.1:c.383+24delC
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000466103
  ensembl transcript: ENST00000593233
  gene symbol: NDUFA11
  hgvsc: ENST00000593233.1:c.*325+24delC
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000389160
  ensembl transcript: ENST00000418389
  gene symbol: NDUFA11
  hgvsc: ENST00000418389.2:c.313+24delC
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130383
  ensembl protein: ENSP00000252675
  ensembl transcript: ENST00000252675
  gene symbol: FUT5
  hgvsc: ENST00000252675.5:c.-172+24delC
  variant of: http://identifiers.org/hgnc/4016
canonical: false
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 5323
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24651
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3442
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18708
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14222
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 786
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2807
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8459
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 4.25e1
  variant carriers: 0
hgvs: p.His113ThrfsTer11
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: TG
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

19-5896445-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5896445
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5896445
    reference: chr 19
allele count: 5
allele frequency: 2.9120559114735e-4
allele num: 17170
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000311740
  ensembl transcript: ENST00000308961
  gene symbol: NDUFA11
  hgvsc: ENST00000308961.4:c.313+19A>C
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000467210
  ensembl transcript: ENST00000585661
  gene symbol: AC024592.12
  hgvsc: ENST00000585661.1:c.308+19A>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000466639
  ensembl transcript: ENST00000586349
  gene symbol: AC024592.12
  hgvsc: ENST00000586349.1:c.383+19A>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000467706
  ensembl transcript: ENST00000592634
  gene symbol: NDUFA11
  hgvsc: ENST00000592634.1:c.332A>C
  hgvsp: ENSP00000467706.1:p.His111Pro
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl transcript: ENST00000591341
  gene symbol: NDUFA11
  hgvsc: ENST00000591341.1:n.229+19A>C
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000466103
  ensembl transcript: ENST00000593233
  gene symbol: NDUFA11
  hgvsc: ENST00000593233.1:c.*325+19A>C
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000465499
  ensembl transcript: ENST00000592091
  gene symbol: AC024592.12
  hgvsc: ENST00000592091.1:c.313+19A>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130383
  ensembl protein: ENSP00000252675
  ensembl transcript: ENST00000252675
  gene symbol: FUT5
  hgvsc: ENST00000252675.5:c.-172+19A>C
  variant of: http://identifiers.org/hgnc/4016
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000389160
  ensembl transcript: ENST00000418389
  gene symbol: NDUFA11
  hgvsc: ENST00000418389.2:c.313+19A>C
  variant of: http://identifiers.org/hgnc/20371
canonical: false
consequence: missense
filter: VQSRTrancheINDEL99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1669
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19816
  bin: 7.5e0
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22979
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5815
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3790
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2728
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 730
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
hgvs: p.His111Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: T
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

19-5896445-T-TGGGGGG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5896445
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5896451
    reference: chr 19
allele count: 2
allele frequency: 1.1648223645894e-4
allele num: 17170
alternate allele: TGGGGGG
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl transcript: ENST00000591341
  gene symbol: NDUFA11
  hgvsc: ENST00000591341.1:n.229+18_229+19insCCCCCC
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000465499
  ensembl transcript: ENST00000592091
  gene symbol: AC024592.12
  hgvsc: ENST00000592091.1:c.313+18_313+19insCCCCCC
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000466103
  ensembl transcript: ENST00000593233
  gene symbol: NDUFA11
  hgvsc: ENST00000593233.1:c.*325+18_*325+19insCCCCCC
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000467210
  ensembl transcript: ENST00000585661
  gene symbol: AC024592.12
  hgvsc: ENST00000585661.1:c.308+18_308+19insCCCCCC
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000389160
  ensembl transcript: ENST00000418389
  gene symbol: NDUFA11
  hgvsc: ENST00000418389.2:c.313+18_313+19insCCCCCC
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000467706
  ensembl transcript: ENST00000592634
  gene symbol: NDUFA11
  hgvsc: ENST00000592634.1:c.331_332insCCCCCC
  hgvsp: ENSP00000467706.1:p.Pro109_Pro110dup
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000311740
  ensembl transcript: ENST00000308961
  gene symbol: NDUFA11
  hgvsc: ENST00000308961.4:c.313+18_313+19insCCCCCC
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000466639
  ensembl transcript: ENST00000586349
  gene symbol: AC024592.12
  hgvsc: ENST00000586349.1:c.383+18_383+19insCCCCCC
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130383
  ensembl protein: ENSP00000252675
  ensembl transcript: ENST00000252675
  gene symbol: FUT5
  hgvsc: ENST00000252675.5:c.-172+18_-172+19insCCCCCC
  variant of: http://identifiers.org/hgnc/4016
canonical: false
consequence: inframe insertion
filter: VQSRTrancheINDEL99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 3790
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19816
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5815
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22979
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1669
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19241
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3430
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro109_Pro110dup
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

19-5896446-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5896446
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5896446
    reference: chr 19
allele count: 1
allele frequency: 3.944461975386557e-5
allele num: 25352
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130383
  ensembl protein: ENSP00000252675
  ensembl transcript: ENST00000252675
  gene symbol: FUT5
  hgvsc: ENST00000252675.5:c.-172+18C>G
  variant of: http://identifiers.org/hgnc/4016
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000311740
  ensembl transcript: ENST00000308961
  gene symbol: NDUFA11
  hgvsc: ENST00000308961.4:c.313+18C>G
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000389160
  ensembl transcript: ENST00000418389
  gene symbol: NDUFA11
  hgvsc: ENST00000418389.2:c.313+18C>G
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl transcript: ENST00000591341
  gene symbol: NDUFA11
  hgvsc: ENST00000591341.1:n.229+18C>G
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000467210
  ensembl transcript: ENST00000585661
  gene symbol: AC024592.12
  hgvsc: ENST00000585661.1:c.308+18C>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000465499
  ensembl transcript: ENST00000592091
  gene symbol: AC024592.12
  hgvsc: ENST00000592091.1:c.313+18C>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000466103
  ensembl transcript: ENST00000593233
  gene symbol: NDUFA11
  hgvsc: ENST00000593233.1:c.*325+18C>G
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000467706
  ensembl transcript: ENST00000592634
  gene symbol: NDUFA11
  hgvsc: ENST00000592634.1:c.331C>G
  hgvsp: ENSP00000467706.1:p.His111Asp
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000466639
  ensembl transcript: ENST00000586349
  gene symbol: AC024592.12
  hgvsc: ENST00000586349.1:c.383+18C>G
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23325
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5282
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1243
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4165
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20680
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4555
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 865
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1671
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 3.75e1
  variant carriers: 0
hgvs: p.His111Asp
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum

19-5896450-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5896450
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5896449
    reference: chr 19
allele count: 1
allele frequency: 4.030307915524746e-5
allele num: 24812
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000465499
  ensembl transcript: ENST00000592091
  gene symbol: AC024592.12
  hgvsc: ENST00000592091.1:c.313+13delC
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000466639
  ensembl transcript: ENST00000586349
  gene symbol: AC024592.12
  hgvsc: ENST00000586349.1:c.383+13delC
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000467706
  ensembl transcript: ENST00000592634
  gene symbol: NDUFA11
  hgvsc: ENST00000592634.1:c.326delC
  hgvsp: ENSP00000467706.1:p.Pro109LeufsTer15
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000389160
  ensembl transcript: ENST00000418389
  gene symbol: NDUFA11
  hgvsc: ENST00000418389.2:c.313+13delC
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000467210
  ensembl transcript: ENST00000585661
  gene symbol: AC024592.12
  hgvsc: ENST00000585661.1:c.308+13delC
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130383
  ensembl protein: ENSP00000252675
  ensembl transcript: ENST00000252675
  gene symbol: FUT5
  hgvsc: ENST00000252675.5:c.-172+13delC
  variant of: http://identifiers.org/hgnc/4016
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000466103
  ensembl transcript: ENST00000593233
  gene symbol: NDUFA11
  hgvsc: ENST00000593233.1:c.*325+13delC
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000311740
  ensembl transcript: ENST00000308961
  gene symbol: NDUFA11
  hgvsc: ENST00000308961.4:c.313+13delC
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl transcript: ENST00000591341
  gene symbol: NDUFA11
  hgvsc: ENST00000591341.1:n.229+13delC
  variant of: http://identifiers.org/hgnc/20371
canonical: false
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5238
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22449
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21644
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1842
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4578
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3443
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4902
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20580
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro109LeufsTer15
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: AG
site quality: FS
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD

19-5896452-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5896452
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5896452
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 26178
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000466639
  ensembl transcript: ENST00000586349
  gene symbol: AC024592.12
  hgvsc: ENST00000586349.1:c.383+12C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000389160
  ensembl transcript: ENST00000418389
  gene symbol: NDUFA11
  hgvsc: ENST00000418389.2:c.313+12C>T
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000467706
  ensembl transcript: ENST00000592634
  gene symbol: NDUFA11
  hgvsc: ENST00000592634.1:c.325C>T
  hgvsp: ENSP00000467706.1:p.Pro109Ser
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000467210
  ensembl transcript: ENST00000585661
  gene symbol: AC024592.12
  hgvsc: ENST00000585661.1:c.308+12C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000466103
  ensembl transcript: ENST00000593233
  gene symbol: NDUFA11
  hgvsc: ENST00000593233.1:c.*325+12C>T
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130383
  ensembl protein: ENSP00000252675
  ensembl transcript: ENST00000252675
  gene symbol: FUT5
  hgvsc: ENST00000252675.5:c.-172+12C>T
  variant of: http://identifiers.org/hgnc/4016
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000311740
  ensembl transcript: ENST00000308961
  gene symbol: NDUFA11
  hgvsc: ENST00000308961.4:c.313+12C>T
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000465499
  ensembl transcript: ENST00000592091
  gene symbol: AC024592.12
  hgvsc: ENST00000592091.1:c.313+12C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl transcript: ENST00000591341
  gene symbol: NDUFA11
  hgvsc: ENST00000591341.1:n.229+12C>T
  variant of: http://identifiers.org/hgnc/20371
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22077
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4963
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1922
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22429
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4935
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5517
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1243
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2698
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro109Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

19-5896458-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5896458
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5896458
    reference: chr 19
allele count: 6
allele frequency: 2.230317448516839e-4
allele num: 26902
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000466103
  ensembl transcript: ENST00000593233
  gene symbol: NDUFA11
  hgvsc: ENST00000593233.1:c.*325+6T>C
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000389160
  ensembl transcript: ENST00000418389
  gene symbol: NDUFA11
  hgvsc: ENST00000418389.2:c.313+6T>C
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl transcript: ENST00000591341
  gene symbol: NDUFA11
  hgvsc: ENST00000591341.1:n.229+6T>C
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000467210
  ensembl transcript: ENST00000585661
  gene symbol: AC024592.12
  hgvsc: ENST00000585661.1:c.308+6T>C
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000466639
  ensembl transcript: ENST00000586349
  gene symbol: AC024592.12
  hgvsc: ENST00000586349.1:c.383+6T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000467706
  ensembl transcript: ENST00000592634
  gene symbol: NDUFA11
  hgvsc: ENST00000592634.1:c.319T>C
  hgvsp: ENSP00000467706.1:p.Trp107Arg
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000465499
  ensembl transcript: ENST00000592091
  gene symbol: AC024592.12
  hgvsc: ENST00000592091.1:c.313+6T>C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000311740
  ensembl transcript: ENST00000308961
  gene symbol: NDUFA11
  hgvsc: ENST00000308961.4:c.313+6T>C
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130383
  ensembl protein: ENSP00000252675
  ensembl transcript: ENST00000252675
  gene symbol: FUT5
  hgvsc: ENST00000252675.5:c.-172+6T>C
  variant of: http://identifiers.org/hgnc/4016
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23486
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4810
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2112
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21026
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5487
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 949
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.75e1
  variant carriers: 1
hgvs: p.Trp107Arg
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: A
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

19-5896458-ACTCACTGCGTGCTC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5896458
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5896444
    reference: chr 19
allele count: 1
allele frequency: 3.717195747528065e-5
allele num: 26902
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000467210
  ensembl transcript: ENST00000585661
  gene symbol: AC024592.12
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000466639
  ensembl transcript: ENST00000586349
  gene symbol: AC024592.12
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  consequence: 5_prime_UTR_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130383
  ensembl protein: ENSP00000252675
  ensembl transcript: ENST00000252675
  gene symbol: FUT5
  variant of: http://identifiers.org/hgnc/4016
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000467706
  ensembl transcript: ENST00000592634
  gene symbol: NDUFA11
  hgvsp: ENSP00000467706.1:p.Gly102ValfsTer61
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000465499
  ensembl transcript: ENST00000592091
  gene symbol: AC024592.12
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000389160
  ensembl transcript: ENST00000418389
  gene symbol: NDUFA11
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000311740
  ensembl transcript: ENST00000308961
  gene symbol: NDUFA11
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl transcript: ENST00000591341
  gene symbol: NDUFA11
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000466103
  ensembl transcript: ENST00000593233
  gene symbol: NDUFA11
  variant of: http://identifiers.org/hgnc/20371
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23486
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21026
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2112
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5487
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4810
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19713
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1088
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 3.75e1
  variant carriers: 0
hgvs: c.305_313+5delGAGCACGCAGTGAG
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: ACTCACTGCGTGCTC
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

19-5896461-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5896461
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5896461
    reference: chr 19
allele count: 5
allele frequency: 1.824684329610977e-4
allele num: 27402
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl transcript: ENST00000591341
  gene symbol: NDUFA11
  hgvsc: ENST00000591341.1:n.229+3G>A
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000311740
  ensembl transcript: ENST00000308961
  gene symbol: NDUFA11
  hgvsc: ENST00000308961.4:c.313+3G>A
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000467210
  ensembl transcript: ENST00000585661
  gene symbol: AC024592.12
  hgvsc: ENST00000585661.1:c.308+3G>A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130383
  ensembl protein: ENSP00000252675
  ensembl transcript: ENST00000252675
  gene symbol: FUT5
  hgvsc: ENST00000252675.5:c.-172+3G>A
  variant of: http://identifiers.org/hgnc/4016
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000467706
  ensembl transcript: ENST00000592634
  gene symbol: NDUFA11
  hgvsc: ENST00000592634.1:c.316G>A
  hgvsp: ENSP00000467706.1:p.Glu106Lys
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000466639
  ensembl transcript: ENST00000586349
  gene symbol: AC024592.12
  hgvsc: ENST00000586349.1:c.383+3G>A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000389160
  ensembl transcript: ENST00000418389
  gene symbol: NDUFA11
  hgvsc: ENST00000418389.2:c.313+3G>A
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000466103
  ensembl transcript: ENST00000593233
  gene symbol: NDUFA11
  hgvsc: ENST00000593233.1:c.*325+3G>A
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000465499
  ensembl transcript: ENST00000592091
  gene symbol: AC024592.12
  hgvsc: ENST00000592091.1:c.313+3G>A
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5773
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4746
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20454
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2156
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24130
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1951
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Glu106Lys
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP

http://identifiers.org/exac.variant/19-5896466-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5896466
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5896466
    reference: chr 19
allele count: 38
allele frequency: 1.355400199743187e-3
allele num: 28036
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000466639
  ensembl transcript: ENST00000586349
  gene symbol: AC024592.12
  hgvsc: ENST00000586349.1:c.381G>T
  hgvsp: ENSP00000466639.1:p.Arg128Leu
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000467210
  ensembl transcript: ENST00000585661
  gene symbol: AC024592.12
  hgvsc: ENST00000585661.1:c.306G>T
  hgvsp: ENSP00000467210.1:p.Arg103Leu
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000467706
  ensembl transcript: ENST00000592634
  gene symbol: NDUFA11
  hgvsc: ENST00000592634.1:c.311G>T
  hgvsp: ENSP00000467706.1:p.Arg104Leu
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000174886
  ensembl transcript: ENST00000591341
  gene symbol: NDUFA11
  hgvsc: ENST00000591341.1:n.227G>T
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000389160
  ensembl transcript: ENST00000418389
  gene symbol: NDUFA11
  hgvsc: ENST00000418389.2:c.311G>T
  hgvsp: ENSP00000389160.1:p.Arg104Leu
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000465499
  ensembl transcript: ENST00000592091
  gene symbol: AC024592.12
  hgvsc: ENST00000592091.1:c.311G>T
  hgvsp: ENSP00000465499.1:p.Arg104Leu
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000466103
  ensembl transcript: ENST00000593233
  gene symbol: NDUFA11
  hgvsc: ENST00000593233.1:c.*323G>T
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130383
  ensembl protein: ENSP00000252675
  ensembl transcript: ENST00000252675
  gene symbol: FUT5
  hgvsc: ENST00000252675.5:c.-174G>T
  variant of: http://identifiers.org/hgnc/4016
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000311740
  ensembl transcript: ENST00000308961
  gene symbol: NDUFA11
  hgvsc: ENST00000308961.4:c.311G>T
  hgvsp: ENSP00000311740.3:p.Arg104Leu
  variant of: http://identifiers.org/hgnc/20371
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2243
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19828
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6013
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24732
  bin: 7.5e0
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4727
  bin: 1.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 3.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1111
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18855
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1016
  bin: 3.25e1
  variant carriers: 2
hgvs: p.Arg128Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD

19-5896466-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5896466
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5896466
    reference: chr 19
allele count: 1
allele frequency: 3.566842630903125e-5
allele num: 28036
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000466639
  ensembl transcript: ENST00000586349
  gene symbol: AC024592.12
  hgvsc: ENST00000586349.1:c.381G>A
  hgvsp: ENSP00000466639.1:p.Arg128His
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000465499
  ensembl transcript: ENST00000592091
  gene symbol: AC024592.12
  hgvsc: ENST00000592091.1:c.311G>A
  hgvsp: ENSP00000465499.1:p.Arg104His
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000174886
  ensembl transcript: ENST00000591341
  gene symbol: NDUFA11
  hgvsc: ENST00000591341.1:n.227G>A
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000389160
  ensembl transcript: ENST00000418389
  gene symbol: NDUFA11
  hgvsc: ENST00000418389.2:c.311G>A
  hgvsp: ENSP00000389160.1:p.Arg104His
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000467706
  ensembl transcript: ENST00000592634
  gene symbol: NDUFA11
  hgvsc: ENST00000592634.1:c.311G>A
  hgvsp: ENSP00000467706.1:p.Arg104His
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000311740
  ensembl transcript: ENST00000308961
  gene symbol: NDUFA11
  hgvsc: ENST00000308961.4:c.311G>A
  hgvsp: ENSP00000311740.3:p.Arg104His
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000467210
  ensembl transcript: ENST00000585661
  gene symbol: AC024592.12
  hgvsc: ENST00000585661.1:c.306G>A
  hgvsp: ENSP00000467210.1:p.Arg103His
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130383
  ensembl protein: ENSP00000252675
  ensembl transcript: ENST00000252675
  gene symbol: FUT5
  hgvsc: ENST00000252675.5:c.-174G>A
  variant of: http://identifiers.org/hgnc/4016
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000466103
  ensembl transcript: ENST00000593233
  gene symbol: NDUFA11
  hgvsc: ENST00000593233.1:c.*323G>A
  variant of: http://identifiers.org/hgnc/20371
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2243
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19828
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6013
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24732
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4727
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23278
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1111
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg128His
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum

19-5896467-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5896467
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5896467
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 28296
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130383
  ensembl protein: ENSP00000252675
  ensembl transcript: ENST00000252675
  gene symbol: FUT5
  hgvsc: ENST00000252675.5:c.-175C>T
  variant of: http://identifiers.org/hgnc/4016
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000311740
  ensembl transcript: ENST00000308961
  gene symbol: NDUFA11
  hgvsc: ENST00000308961.4:c.310C>T
  hgvsp: ENSP00000311740.3:p.Arg104Cys
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000467210
  ensembl transcript: ENST00000585661
  gene symbol: AC024592.12
  hgvsc: ENST00000585661.1:c.305C>T
  hgvsp: ENSP00000467210.1:p.Arg103Cys
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000389160
  ensembl transcript: ENST00000418389
  gene symbol: NDUFA11
  hgvsc: ENST00000418389.2:c.310C>T
  hgvsp: ENSP00000389160.1:p.Arg104Cys
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000467706
  ensembl transcript: ENST00000592634
  gene symbol: NDUFA11
  hgvsc: ENST00000592634.1:c.310C>T
  hgvsp: ENSP00000467706.1:p.Arg104Cys
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000466103
  ensembl transcript: ENST00000593233
  gene symbol: NDUFA11
  hgvsc: ENST00000593233.1:c.*322C>T
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000466639
  ensembl transcript: ENST00000586349
  gene symbol: AC024592.12
  hgvsc: ENST00000586349.1:c.380C>T
  hgvsp: ENSP00000466639.1:p.Arg128Cys
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000465499
  ensembl transcript: ENST00000592091
  gene symbol: AC024592.12
  hgvsc: ENST00000592091.1:c.310C>T
  hgvsp: ENSP00000465499.1:p.Arg104Cys
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174886
  ensembl transcript: ENST00000591341
  gene symbol: NDUFA11
  hgvsc: ENST00000591341.1:n.226C>T
  variant of: http://identifiers.org/hgnc/20371
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2278
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24948
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4690
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19610
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6137
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23668
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1024
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1727
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg128Cys
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

19-5896474-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5896474
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5896474
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 28538
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000465499
  ensembl transcript: ENST00000592091
  gene symbol: AC024592.12
  hgvsc: ENST00000592091.1:c.303G>A
  hgvsp: ENST00000592091.1:c.303G>A(p.%3D)
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000389160
  ensembl transcript: ENST00000418389
  gene symbol: NDUFA11
  hgvsc: ENST00000418389.2:c.303G>A
  hgvsp: ENST00000418389.2:c.303G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000311740
  ensembl transcript: ENST00000308961
  gene symbol: NDUFA11
  hgvsc: ENST00000308961.4:c.303G>A
  hgvsp: ENST00000308961.4:c.303G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000467706
  ensembl transcript: ENST00000592634
  gene symbol: NDUFA11
  hgvsc: ENST00000592634.1:c.303G>A
  hgvsp: ENST00000592634.1:c.303G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130383
  ensembl protein: ENSP00000252675
  ensembl transcript: ENST00000252675
  gene symbol: FUT5
  hgvsc: ENST00000252675.5:c.-182G>A
  variant of: http://identifiers.org/hgnc/4016
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000466639
  ensembl transcript: ENST00000586349
  gene symbol: AC024592.12
  hgvsc: ENST00000586349.1:c.373G>A
  hgvsp: ENST00000586349.1:c.373G>A(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000467210
  ensembl transcript: ENST00000585661
  gene symbol: AC024592.12
  hgvsc: ENST00000585661.1:c.298G>A
  hgvsp: ENST00000585661.1:c.298G>A(p.%3D)
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000466103
  ensembl transcript: ENST00000593233
  gene symbol: NDUFA11
  hgvsc: ENST00000593233.1:c.*315G>A
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174886
  ensembl transcript: ENST00000591341
  gene symbol: NDUFA11
  hgvsc: ENST00000591341.1:n.219G>A
  variant of: http://identifiers.org/hgnc/20371
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2332
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6135
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25553
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4788
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19046
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu125Leu
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ

19-5896478-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5896478
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5896478
    reference: chr 19
allele count: 3
allele frequency: 1.041160546956341e-4
allele num: 28814
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000465499
  ensembl transcript: ENST00000592091
  gene symbol: AC024592.12
  hgvsc: ENST00000592091.1:c.299C>T
  hgvsp: ENSP00000465499.1:p.Thr100Ile
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000467706
  ensembl transcript: ENST00000592634
  gene symbol: NDUFA11
  hgvsc: ENST00000592634.1:c.299C>T
  hgvsp: ENSP00000467706.1:p.Thr100Ile
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000466639
  ensembl transcript: ENST00000586349
  gene symbol: AC024592.12
  hgvsc: ENST00000586349.1:c.369C>T
  hgvsp: ENSP00000466639.1:p.Thr124Ile
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130383
  ensembl protein: ENSP00000252675
  ensembl transcript: ENST00000252675
  gene symbol: FUT5
  hgvsc: ENST00000252675.5:c.-186C>T
  variant of: http://identifiers.org/hgnc/4016
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000389160
  ensembl transcript: ENST00000418389
  gene symbol: NDUFA11
  hgvsc: ENST00000418389.2:c.299C>T
  hgvsp: ENSP00000389160.1:p.Thr100Ile
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000467210
  ensembl transcript: ENST00000585661
  gene symbol: AC024592.12
  hgvsc: ENST00000585661.1:c.294C>T
  hgvsp: ENSP00000467210.1:p.Thr99Ile
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174886
  ensembl transcript: ENST00000591341
  gene symbol: NDUFA11
  hgvsc: ENST00000591341.1:n.215C>T
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000311740
  ensembl transcript: ENST00000308961
  gene symbol: NDUFA11
  hgvsc: ENST00000308961.4:c.299C>T
  hgvsp: ENSP00000311740.3:p.Thr100Ile
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000466103
  ensembl transcript: ENST00000593233
  gene symbol: NDUFA11
  hgvsc: ENST00000593233.1:c.*311C>T
  variant of: http://identifiers.org/hgnc/20371
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4828
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6177
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2328
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18739
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25848
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7171
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17914
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 8.25e1
  variant carriers: 1
hgvs: p.Thr124Ile
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

19-5896479-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5896479
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5896479
    reference: chr 19
allele count: 1
allele frequency: 3.470294280955025e-5
allele num: 28816
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000311740
  ensembl transcript: ENST00000308961
  gene symbol: NDUFA11
  hgvsc: ENST00000308961.4:c.298A>T
  hgvsp: ENSP00000311740.3:p.Thr100Ser
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000467210
  ensembl transcript: ENST00000585661
  gene symbol: AC024592.12
  hgvsc: ENST00000585661.1:c.293A>T
  hgvsp: ENSP00000467210.1:p.Thr99Ser
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000389160
  ensembl transcript: ENST00000418389
  gene symbol: NDUFA11
  hgvsc: ENST00000418389.2:c.298A>T
  hgvsp: ENSP00000389160.1:p.Thr100Ser
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174886
  ensembl transcript: ENST00000591341
  gene symbol: NDUFA11
  hgvsc: ENST00000591341.1:n.214A>T
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000466103
  ensembl transcript: ENST00000593233
  gene symbol: NDUFA11
  hgvsc: ENST00000593233.1:c.*310A>T
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000465499
  ensembl transcript: ENST00000592091
  gene symbol: AC024592.12
  hgvsc: ENST00000592091.1:c.298A>T
  hgvsp: ENSP00000465499.1:p.Thr100Ser
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000466639
  ensembl transcript: ENST00000586349
  gene symbol: AC024592.12
  hgvsc: ENST00000586349.1:c.368A>T
  hgvsp: ENSP00000466639.1:p.Thr124Ser
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130383
  ensembl protein: ENSP00000252675
  ensembl transcript: ENST00000252675
  gene symbol: FUT5
  hgvsc: ENST00000252675.5:c.-187A>T
  variant of: http://identifiers.org/hgnc/4016
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000467706
  ensembl transcript: ENST00000592634
  gene symbol: NDUFA11
  hgvsc: ENST00000592634.1:c.298A>T
  hgvsp: ENSP00000467706.1:p.Thr100Ser
  variant of: http://identifiers.org/hgnc/20371
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6141
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4886
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2332
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25802
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18745
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24012
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1068
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr124Ser
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/19-5896480-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5896480
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5896480
    reference: chr 19
allele count: 1
allele frequency: 3.46476335666274e-5
allele num: 28862
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000466639
  ensembl transcript: ENST00000586349
  gene symbol: AC024592.12
  hgvsc: ENST00000586349.1:c.367G>T
  hgvsp: ENST00000586349.1:c.367G>T(p.%3D)
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174886
  ensembl transcript: ENST00000591341
  gene symbol: NDUFA11
  hgvsc: ENST00000591341.1:n.213G>T
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000465499
  ensembl transcript: ENST00000592091
  gene symbol: AC024592.12
  hgvsc: ENST00000592091.1:c.297G>T
  hgvsp: ENST00000592091.1:c.297G>T(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000467210
  ensembl transcript: ENST00000585661
  gene symbol: AC024592.12
  hgvsc: ENST00000585661.1:c.292G>T
  hgvsp: ENST00000585661.1:c.292G>T(p.%3D)
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130383
  ensembl protein: ENSP00000252675
  ensembl transcript: ENST00000252675
  gene symbol: FUT5
  hgvsc: ENST00000252675.5:c.-188G>T
  variant of: http://identifiers.org/hgnc/4016
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000311740
  ensembl transcript: ENST00000308961
  gene symbol: NDUFA11
  hgvsc: ENST00000308961.4:c.297G>T
  hgvsp: ENST00000308961.4:c.297G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000467706
  ensembl transcript: ENST00000592634
  gene symbol: NDUFA11
  hgvsc: ENST00000592634.1:c.297G>T
  hgvsp: ENST00000592634.1:c.297G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000389160
  ensembl transcript: ENST00000418389
  gene symbol: NDUFA11
  hgvsc: ENST00000418389.2:c.297G>T
  hgvsp: ENST00000418389.2:c.297G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000466103
  ensembl transcript: ENST00000593233
  gene symbol: NDUFA11
  hgvsc: ENST00000593233.1:c.*309G>T
  variant of: http://identifiers.org/hgnc/20371
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6126
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2351
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25781
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18748
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4902
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1067
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17965
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1153
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu123Leu
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP

19-5896492-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5896492
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5896492
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 28942
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174886
  ensembl transcript: ENST00000591341
  gene symbol: NDUFA11
  hgvsc: ENST00000591341.1:n.201C>T
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000466103
  ensembl transcript: ENST00000593233
  gene symbol: NDUFA11
  hgvsc: ENST00000593233.1:c.*297C>T
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000467706
  ensembl transcript: ENST00000592634
  gene symbol: NDUFA11
  hgvsc: ENST00000592634.1:c.285C>T
  hgvsp: ENST00000592634.1:c.285C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000389160
  ensembl transcript: ENST00000418389
  gene symbol: NDUFA11
  hgvsc: ENST00000418389.2:c.285C>T
  hgvsp: ENST00000418389.2:c.285C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000466639
  ensembl transcript: ENST00000586349
  gene symbol: AC024592.12
  hgvsc: ENST00000586349.1:c.355C>T
  hgvsp: ENST00000586349.1:c.355C>T(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000465499
  ensembl transcript: ENST00000592091
  gene symbol: AC024592.12
  hgvsc: ENST00000592091.1:c.285C>T
  hgvsp: ENST00000592091.1:c.285C>T(p.%3D)
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130383
  ensembl protein: ENSP00000252675
  ensembl transcript: ENST00000252675
  gene symbol: FUT5
  hgvsc: ENST00000252675.5:c.-200C>T
  variant of: http://identifiers.org/hgnc/4016
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000467210
  ensembl transcript: ENST00000585661
  gene symbol: AC024592.12
  hgvsc: ENST00000585661.1:c.280C>T
  hgvsp: ENST00000585661.1:c.280C>T(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000311740
  ensembl transcript: ENST00000308961
  gene symbol: NDUFA11
  hgvsc: ENST00000308961.4:c.285C>T
  hgvsp: ENST00000308961.4:c.285C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20371
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6063
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26195
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18341
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4974
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2451
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1079
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2785
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Cys119Cys
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/19-5896499-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5896499
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5896499
    reference: chr 19
allele count: 1
allele frequency: 3.430767119527926e-5
allele num: 29148
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000467706
  ensembl transcript: ENST00000592634
  gene symbol: NDUFA11
  hgvsc: ENST00000592634.1:c.278G>T
  hgvsp: ENSP00000467706.1:p.Gly93Val
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000311740
  ensembl transcript: ENST00000308961
  gene symbol: NDUFA11
  hgvsc: ENST00000308961.4:c.278G>T
  hgvsp: ENSP00000311740.3:p.Gly93Val
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000465499
  ensembl transcript: ENST00000592091
  gene symbol: AC024592.12
  hgvsc: ENST00000592091.1:c.278G>T
  hgvsp: ENSP00000465499.1:p.Gly93Val
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130383
  ensembl protein: ENSP00000252675
  ensembl transcript: ENST00000252675
  gene symbol: FUT5
  hgvsc: ENST00000252675.5:c.-207G>T
  variant of: http://identifiers.org/hgnc/4016
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000467210
  ensembl transcript: ENST00000585661
  gene symbol: AC024592.12
  hgvsc: ENST00000585661.1:c.273G>T
  hgvsp: ENSP00000467210.1:p.Gly92Val
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174886
  ensembl transcript: ENST00000591341
  gene symbol: NDUFA11
  hgvsc: ENST00000591341.1:n.194G>T
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000466103
  ensembl transcript: ENST00000593233
  gene symbol: NDUFA11
  hgvsc: ENST00000593233.1:c.*290G>T
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000389160
  ensembl transcript: ENST00000418389
  gene symbol: NDUFA11
  hgvsc: ENST00000418389.2:c.278G>T
  hgvsp: ENSP00000389160.1:p.Gly93Val
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000466639
  ensembl transcript: ENST00000586349
  gene symbol: AC024592.12
  hgvsc: ENST00000586349.1:c.348G>T
  hgvsp: ENSP00000466639.1:p.Gly117Val
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2472
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26486
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4901
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18219
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6105
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2861
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly117Val
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

19-5896500-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5896500
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5896500
    reference: chr 19
allele count: 1
allele frequency: 3.445899379738111e-5
allele num: 29020
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130383
  ensembl protein: ENSP00000252675
  ensembl transcript: ENST00000252675
  gene symbol: FUT5
  hgvsc: ENST00000252675.5:c.-208G>A
  variant of: http://identifiers.org/hgnc/4016
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000467706
  ensembl transcript: ENST00000592634
  gene symbol: NDUFA11
  hgvsc: ENST00000592634.1:c.277G>A
  hgvsp: ENSP00000467706.1:p.Gly93Ser
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174886
  ensembl transcript: ENST00000591341
  gene symbol: NDUFA11
  hgvsc: ENST00000591341.1:n.193G>A
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000467210
  ensembl transcript: ENST00000585661
  gene symbol: AC024592.12
  hgvsc: ENST00000585661.1:c.272G>A
  hgvsp: ENSP00000467210.1:p.Gly92Ser
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000389160
  ensembl transcript: ENST00000418389
  gene symbol: NDUFA11
  hgvsc: ENST00000418389.2:c.277G>A
  hgvsp: ENSP00000389160.1:p.Gly93Ser
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000465499
  ensembl transcript: ENST00000592091
  gene symbol: AC024592.12
  hgvsc: ENST00000592091.1:c.277G>A
  hgvsp: ENSP00000465499.1:p.Gly93Ser
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000311740
  ensembl transcript: ENST00000308961
  gene symbol: NDUFA11
  hgvsc: ENST00000308961.4:c.277G>A
  hgvsp: ENSP00000311740.3:p.Gly93Ser
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000466103
  ensembl transcript: ENST00000593233
  gene symbol: NDUFA11
  hgvsc: ENST00000593233.1:c.*289G>A
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000466639
  ensembl transcript: ENST00000586349
  gene symbol: AC024592.12
  hgvsc: ENST00000586349.1:c.347G>A
  hgvsp: ENSP00000466639.1:p.Gly117Ser
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26512
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4895
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2479
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18185
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6120
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1087
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1042
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 788
  bin: 3.25e1
  variant carriers: 1
hgvs: p.Gly117Ser
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

19-5896501-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5896501
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5896501
    reference: chr 19
allele count: 3
allele frequency: 1.03021978021978e-4
allele num: 29120
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000311740
  ensembl transcript: ENST00000308961
  gene symbol: NDUFA11
  hgvsc: ENST00000308961.4:c.276C>T
  hgvsp: ENST00000308961.4:c.276C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174886
  ensembl transcript: ENST00000591341
  gene symbol: NDUFA11
  hgvsc: ENST00000591341.1:n.192C>T
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130383
  ensembl protein: ENSP00000252675
  ensembl transcript: ENST00000252675
  gene symbol: FUT5
  hgvsc: ENST00000252675.5:c.-209C>T
  variant of: http://identifiers.org/hgnc/4016
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000466639
  ensembl transcript: ENST00000586349
  gene symbol: AC024592.12
  hgvsc: ENST00000586349.1:c.346C>T
  hgvsp: ENST00000586349.1:c.346C>T(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000467706
  ensembl transcript: ENST00000592634
  gene symbol: NDUFA11
  hgvsc: ENST00000592634.1:c.276C>T
  hgvsp: ENST00000592634.1:c.276C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000389160
  ensembl transcript: ENST00000418389
  gene symbol: NDUFA11
  hgvsc: ENST00000418389.2:c.276C>T
  hgvsp: ENST00000418389.2:c.276C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000467210
  ensembl transcript: ENST00000585661
  gene symbol: AC024592.12
  hgvsc: ENST00000585661.1:c.271C>T
  hgvsp: ENST00000585661.1:c.271C>T(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000465499
  ensembl transcript: ENST00000592091
  gene symbol: AC024592.12
  hgvsc: ENST00000592091.1:c.276C>T
  hgvsp: ENST00000592091.1:c.276C>T(p.%3D)
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000466103
  ensembl transcript: ENST00000593233
  gene symbol: NDUFA11
  hgvsc: ENST00000593233.1:c.*288C>T
  variant of: http://identifiers.org/hgnc/20371
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4896
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2489
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26582
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18103
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6175
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1030
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1836
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu116Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

19-5896510-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5896510
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5896510
    reference: chr 19
allele count: 1
allele frequency: 3.448751551938198e-5
allele num: 28996
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174886
  ensembl transcript: ENST00000591341
  gene symbol: NDUFA11
  hgvsc: ENST00000591341.1:n.183C>G
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000311740
  ensembl transcript: ENST00000308961
  gene symbol: NDUFA11
  hgvsc: ENST00000308961.4:c.267C>G
  hgvsp: ENSP00000311740.3:p.Asn89Lys
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000465499
  ensembl transcript: ENST00000592091
  gene symbol: AC024592.12
  hgvsc: ENST00000592091.1:c.267C>G
  hgvsp: ENSP00000465499.1:p.Asn89Lys
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000466103
  ensembl transcript: ENST00000593233
  gene symbol: NDUFA11
  hgvsc: ENST00000593233.1:c.*279C>G
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000389160
  ensembl transcript: ENST00000418389
  gene symbol: NDUFA11
  hgvsc: ENST00000418389.2:c.267C>G
  hgvsp: ENSP00000389160.1:p.Asn89Lys
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000466639
  ensembl transcript: ENST00000586349
  gene symbol: AC024592.12
  hgvsc: ENST00000586349.1:c.337C>G
  hgvsp: ENSP00000466639.1:p.Asn113Lys
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130383
  ensembl protein: ENSP00000252675
  ensembl transcript: ENST00000252675
  gene symbol: FUT5
  hgvsc: ENST00000252675.5:c.-218C>G
  variant of: http://identifiers.org/hgnc/4016
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000467210
  ensembl transcript: ENST00000585661
  gene symbol: AC024592.12
  hgvsc: ENST00000585661.1:c.262C>G
  hgvsp: ENSP00000467210.1:p.Asn88Lys
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000467706
  ensembl transcript: ENST00000592634
  gene symbol: NDUFA11
  hgvsc: ENST00000592634.1:c.267C>G
  hgvsp: ENSP00000467706.1:p.Asn89Lys
  variant of: http://identifiers.org/hgnc/20371
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6164
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26180
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18602
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2520
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4756
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1122
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7369
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2153
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asn113Lys
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

19-5896517-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5896517
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5896517
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 28218
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174886
  ensembl transcript: ENST00000591341
  gene symbol: NDUFA11
  hgvsc: ENST00000591341.1:n.176C>T
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000465499
  ensembl transcript: ENST00000592091
  gene symbol: AC024592.12
  hgvsc: ENST00000592091.1:c.260C>T
  hgvsp: ENSP00000465499.1:p.Pro87Leu
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130383
  ensembl protein: ENSP00000252675
  ensembl transcript: ENST00000252675
  gene symbol: FUT5
  hgvsc: ENST00000252675.5:c.-225C>T
  variant of: http://identifiers.org/hgnc/4016
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000467210
  ensembl transcript: ENST00000585661
  gene symbol: AC024592.12
  hgvsc: ENST00000585661.1:c.255C>T
  hgvsp: ENSP00000467210.1:p.Pro86Leu
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000311740
  ensembl transcript: ENST00000308961
  gene symbol: NDUFA11
  hgvsc: ENST00000308961.4:c.260C>T
  hgvsp: ENSP00000311740.3:p.Pro87Leu
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000466103
  ensembl transcript: ENST00000593233
  gene symbol: NDUFA11
  hgvsc: ENST00000593233.1:c.*272C>T
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000389160
  ensembl transcript: ENST00000418389
  gene symbol: NDUFA11
  hgvsc: ENST00000418389.2:c.260C>T
  hgvsp: ENSP00000389160.1:p.Pro87Leu
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000467706
  ensembl transcript: ENST00000592634
  gene symbol: NDUFA11
  hgvsc: ENST00000592634.1:c.260C>T
  hgvsp: ENSP00000467706.1:p.Pro87Leu
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000466639
  ensembl transcript: ENST00000586349
  gene symbol: AC024592.12
  hgvsc: ENST00000586349.1:c.330C>T
  hgvsp: ENSP00000466639.1:p.Pro111Leu
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 25849
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19162
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4470
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2540
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6138
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1166
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro111Leu
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

19-5896521-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5896521
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5896521
    reference: chr 19
allele count: 2
allele frequency: 7.17308657915501e-5
allele num: 27882
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174886
  ensembl transcript: ENST00000591341
  gene symbol: NDUFA11
  hgvsc: ENST00000591341.1:n.172G>A
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000311740
  ensembl transcript: ENST00000308961
  gene symbol: NDUFA11
  hgvsc: ENST00000308961.4:c.256G>A
  hgvsp: ENSP00000311740.3:p.Asp86Asn
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000467210
  ensembl transcript: ENST00000585661
  gene symbol: AC024592.12
  hgvsc: ENST00000585661.1:c.251G>A
  hgvsp: ENSP00000467210.1:p.Asp85Asn
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000466103
  ensembl transcript: ENST00000593233
  gene symbol: NDUFA11
  hgvsc: ENST00000593233.1:c.*268G>A
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000466639
  ensembl transcript: ENST00000586349
  gene symbol: AC024592.12
  hgvsc: ENST00000586349.1:c.326G>A
  hgvsp: ENSP00000466639.1:p.Asp110Asn
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000465499
  ensembl transcript: ENST00000592091
  gene symbol: AC024592.12
  hgvsc: ENST00000592091.1:c.256G>A
  hgvsp: ENSP00000465499.1:p.Asp86Asn
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000467706
  ensembl transcript: ENST00000592634
  gene symbol: NDUFA11
  hgvsc: ENST00000592634.1:c.256G>A
  hgvsp: ENSP00000467706.1:p.Asp86Asn
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000389160
  ensembl transcript: ENST00000418389
  gene symbol: NDUFA11
  hgvsc: ENST00000418389.2:c.256G>A
  hgvsp: ENSP00000389160.1:p.Asp86Asn
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130383
  ensembl protein: ENSP00000252675
  ensembl transcript: ENST00000252675
  gene symbol: FUT5
  hgvsc: ENST00000252675.5:c.-229G>A
  variant of: http://identifiers.org/hgnc/4016
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25809
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2555
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4276
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19374
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6176
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1279
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21773
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3626
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asp110Asn
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP

19-5896522-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5896522
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5896522
    reference: chr 19
allele count: 4
allele frequency: 1.423386235855099e-4
allele num: 28102
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174886
  ensembl transcript: ENST00000591341
  gene symbol: NDUFA11
  hgvsc: ENST00000591341.1:n.171C>T
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000467210
  ensembl transcript: ENST00000585661
  gene symbol: AC024592.12
  hgvsc: ENST00000585661.1:c.250C>T
  hgvsp: ENST00000585661.1:c.250C>T(p.%3D)
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000466639
  ensembl transcript: ENST00000586349
  gene symbol: AC024592.12
  hgvsc: ENST00000586349.1:c.325C>T
  hgvsp: ENST00000586349.1:c.325C>T(p.%3D)
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000389160
  ensembl transcript: ENST00000418389
  gene symbol: NDUFA11
  hgvsc: ENST00000418389.2:c.255C>T
  hgvsp: ENST00000418389.2:c.255C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000466103
  ensembl transcript: ENST00000593233
  gene symbol: NDUFA11
  hgvsc: ENST00000593233.1:c.*267C>T
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000311740
  ensembl transcript: ENST00000308961
  gene symbol: NDUFA11
  hgvsc: ENST00000308961.4:c.255C>T
  hgvsp: ENST00000308961.4:c.255C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000465499
  ensembl transcript: ENST00000592091
  gene symbol: AC024592.12
  hgvsc: ENST00000592091.1:c.255C>T
  hgvsp: ENST00000592091.1:c.255C>T(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000467706
  ensembl transcript: ENST00000592634
  gene symbol: NDUFA11
  hgvsc: ENST00000592634.1:c.255C>T
  hgvsp: ENST00000592634.1:c.255C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130383
  ensembl protein: ENSP00000252675
  ensembl transcript: ENST00000252675
  gene symbol: FUT5
  hgvsc: ENST00000252675.5:c.-230C>T
  variant of: http://identifiers.org/hgnc/4016
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25927
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6223
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19242
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2609
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4244
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 1.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2777
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18969
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2409
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asp109Asp
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

19-5896522-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5896522
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5896522
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 28102
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000467706
  ensembl transcript: ENST00000592634
  gene symbol: NDUFA11
  hgvsc: ENST00000592634.1:c.255C>A
  hgvsp: ENSP00000467706.1:p.Asp85Glu
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000311740
  ensembl transcript: ENST00000308961
  gene symbol: NDUFA11
  hgvsc: ENST00000308961.4:c.255C>A
  hgvsp: ENSP00000311740.3:p.Asp85Glu
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174886
  ensembl transcript: ENST00000591341
  gene symbol: NDUFA11
  hgvsc: ENST00000591341.1:n.171C>A
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130383
  ensembl protein: ENSP00000252675
  ensembl transcript: ENST00000252675
  gene symbol: FUT5
  hgvsc: ENST00000252675.5:c.-230C>A
  variant of: http://identifiers.org/hgnc/4016
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000389160
  ensembl transcript: ENST00000418389
  gene symbol: NDUFA11
  hgvsc: ENST00000418389.2:c.255C>A
  hgvsp: ENSP00000389160.1:p.Asp85Glu
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000467210
  ensembl transcript: ENST00000585661
  gene symbol: AC024592.12
  hgvsc: ENST00000585661.1:c.250C>A
  hgvsp: ENSP00000467210.1:p.Asp84Glu
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000465499
  ensembl transcript: ENST00000592091
  gene symbol: AC024592.12
  hgvsc: ENST00000592091.1:c.255C>A
  hgvsp: ENSP00000465499.1:p.Asp85Glu
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000466639
  ensembl transcript: ENST00000586349
  gene symbol: AC024592.12
  hgvsc: ENST00000586349.1:c.325C>A
  hgvsp: ENSP00000466639.1:p.Asp109Glu
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000466103
  ensembl transcript: ENST00000593233
  gene symbol: NDUFA11
  hgvsc: ENST00000593233.1:c.*267C>A
  variant of: http://identifiers.org/hgnc/20371
canonical: true
consequence: missense
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25927
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6223
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4244
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19242
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2609
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2409
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asp109Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

19-5896532-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5896532
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5896532
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 27278
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000467706
  ensembl transcript: ENST00000592634
  gene symbol: NDUFA11
  hgvsc: ENST00000592634.1:c.245A>G
  hgvsp: ENSP00000467706.1:p.Glu82Gly
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130383
  ensembl protein: ENSP00000252675
  ensembl transcript: ENST00000252675
  gene symbol: FUT5
  hgvsc: ENST00000252675.5:c.-240A>G
  variant of: http://identifiers.org/hgnc/4016
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000466103
  ensembl transcript: ENST00000593233
  gene symbol: NDUFA11
  hgvsc: ENST00000593233.1:c.*257A>G
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000311740
  ensembl transcript: ENST00000308961
  gene symbol: NDUFA11
  hgvsc: ENST00000308961.4:c.245A>G
  hgvsp: ENSP00000311740.3:p.Glu82Gly
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000465499
  ensembl transcript: ENST00000592091
  gene symbol: AC024592.12
  hgvsc: ENST00000592091.1:c.245A>G
  hgvsp: ENSP00000465499.1:p.Glu82Gly
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000466639
  ensembl transcript: ENST00000586349
  gene symbol: AC024592.12
  hgvsc: ENST00000586349.1:c.315A>G
  hgvsp: ENSP00000466639.1:p.Glu106Gly
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000467210
  ensembl transcript: ENST00000585661
  gene symbol: AC024592.12
  hgvsc: ENST00000585661.1:c.240A>G
  hgvsp: ENSP00000467210.1:p.Glu81Gly
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000389160
  ensembl transcript: ENST00000418389
  gene symbol: NDUFA11
  hgvsc: ENST00000418389.2:c.245A>G
  hgvsp: ENSP00000389160.1:p.Glu82Gly
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174886
  ensembl transcript: ENST00000591341
  gene symbol: NDUFA11
  hgvsc: ENST00000591341.1:n.161A>G
  variant of: http://identifiers.org/hgnc/20371
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3697
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6306
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2676
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19994
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25616
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7668
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19605
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Glu106Gly
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: T
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

19-5896536-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5896536
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5896536
    reference: chr 19
allele count: 1
allele frequency: 3.774724445115507e-5
allele num: 26492
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174886
  ensembl transcript: ENST00000591341
  gene symbol: NDUFA11
  hgvsc: ENST00000591341.1:n.157C>A
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000467210
  ensembl transcript: ENST00000585661
  gene symbol: AC024592.12
  hgvsc: ENST00000585661.1:c.236C>A
  hgvsp: ENSP00000467210.1:p.Arg80Ser
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000311740
  ensembl transcript: ENST00000308961
  gene symbol: NDUFA11
  hgvsc: ENST00000308961.4:c.241C>A
  hgvsp: ENSP00000311740.3:p.Arg81Ser
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000467706
  ensembl transcript: ENST00000592634
  gene symbol: NDUFA11
  hgvsc: ENST00000592634.1:c.241C>A
  hgvsp: ENSP00000467706.1:p.Arg81Ser
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000389160
  ensembl transcript: ENST00000418389
  gene symbol: NDUFA11
  hgvsc: ENST00000418389.2:c.241C>A
  hgvsp: ENSP00000389160.1:p.Arg81Ser
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000466103
  ensembl transcript: ENST00000593233
  gene symbol: NDUFA11
  hgvsc: ENST00000593233.1:c.*253C>A
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000465499
  ensembl transcript: ENST00000592091
  gene symbol: AC024592.12
  hgvsc: ENST00000592091.1:c.241C>A
  hgvsp: ENSP00000465499.1:p.Arg81Ser
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000466639
  ensembl transcript: ENST00000586349
  gene symbol: AC024592.12
  hgvsc: ENST00000586349.1:c.311C>A
  hgvsp: ENSP00000466639.1:p.Arg105Ser
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130383
  ensembl protein: ENSP00000252675
  ensembl transcript: ENST00000252675
  gene symbol: FUT5
  hgvsc: ENST00000252675.5:c.-244C>A
  variant of: http://identifiers.org/hgnc/4016
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6273
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20356
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3462
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25437
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2705
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1387
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg105Ser
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

19-5896538-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5896538
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5896538
    reference: chr 19
allele count: 2
allele frequency: 7.520493344363391e-5
allele num: 26594
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000466103
  ensembl transcript: ENST00000593233
  gene symbol: NDUFA11
  hgvsc: ENST00000593233.1:c.*251T>C
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174886
  ensembl transcript: ENST00000591341
  gene symbol: NDUFA11
  hgvsc: ENST00000591341.1:n.155T>C
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130383
  ensembl protein: ENSP00000252675
  ensembl transcript: ENST00000252675
  gene symbol: FUT5
  hgvsc: ENST00000252675.5:c.-246T>C
  variant of: http://identifiers.org/hgnc/4016
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000467706
  ensembl transcript: ENST00000592634
  gene symbol: NDUFA11
  hgvsc: ENST00000592634.1:c.239T>C
  hgvsp: ENSP00000467706.1:p.Val80Ala
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000466639
  ensembl transcript: ENST00000586349
  gene symbol: AC024592.12
  hgvsc: ENST00000586349.1:c.309T>C
  hgvsp: ENSP00000466639.1:p.Val104Ala
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000465499
  ensembl transcript: ENST00000592091
  gene symbol: AC024592.12
  hgvsc: ENST00000592091.1:c.239T>C
  hgvsp: ENSP00000465499.1:p.Val80Ala
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000311740
  ensembl transcript: ENST00000308961
  gene symbol: NDUFA11
  hgvsc: ENST00000308961.4:c.239T>C
  hgvsp: ENSP00000311740.3:p.Val80Ala
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000467210
  ensembl transcript: ENST00000585661
  gene symbol: AC024592.12
  hgvsc: ENST00000585661.1:c.234T>C
  hgvsp: ENSP00000467210.1:p.Val79Ala
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000389160
  ensembl transcript: ENST00000418389
  gene symbol: NDUFA11
  hgvsc: ENST00000418389.2:c.239T>C
  hgvsp: ENSP00000389160.1:p.Val80Ala
  variant of: http://identifiers.org/hgnc/20371
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6289
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2711
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20341
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3382
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25597
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1058
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3227
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Val104Ala
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

19-5896545-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5896545
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5896545
    reference: chr 19
allele count: 2
allele frequency: 7.677543186180422e-5
allele num: 26050
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000311740
  ensembl transcript: ENST00000308961
  gene symbol: NDUFA11
  hgvsc: ENST00000308961.4:c.232G>A
  hgvsp: ENSP00000311740.3:p.Ala78Thr
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000389160
  ensembl transcript: ENST00000418389
  gene symbol: NDUFA11
  hgvsc: ENST00000418389.2:c.232G>A
  hgvsp: ENSP00000389160.1:p.Ala78Thr
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000466639
  ensembl transcript: ENST00000586349
  gene symbol: AC024592.12
  hgvsc: ENST00000586349.1:c.302G>A
  hgvsp: ENSP00000466639.1:p.Ala102Thr
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130383
  ensembl protein: ENSP00000252675
  ensembl transcript: ENST00000252675
  gene symbol: FUT5
  hgvsc: ENST00000252675.5:c.-253G>A
  variant of: http://identifiers.org/hgnc/4016
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000466103
  ensembl transcript: ENST00000593233
  gene symbol: NDUFA11
  hgvsc: ENST00000593233.1:c.*244G>A
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174886
  ensembl transcript: ENST00000591341
  gene symbol: NDUFA11
  hgvsc: ENST00000591341.1:n.148G>A
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000467210
  ensembl transcript: ENST00000585661
  gene symbol: AC024592.12
  hgvsc: ENST00000585661.1:c.227G>A
  hgvsp: ENSP00000467210.1:p.Ala77Thr
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000465499
  ensembl transcript: ENST00000592091
  gene symbol: AC024592.12
  hgvsc: ENST00000592091.1:c.232G>A
  hgvsp: ENSP00000465499.1:p.Ala78Thr
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000467706
  ensembl transcript: ENST00000592634
  gene symbol: NDUFA11
  hgvsc: ENST00000592634.1:c.232G>A
  hgvsp: ENSP00000467706.1:p.Ala78Thr
  variant of: http://identifiers.org/hgnc/20371
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3193
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6285
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20570
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25543
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2710
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7721
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2890
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1164
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala102Thr
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum

19-5896546-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5896546
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5896546
    reference: chr 19
allele count: 1
allele frequency: 3.866377977111043e-5
allele num: 25864
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000467210
  ensembl transcript: ENST00000585661
  gene symbol: AC024592.12
  hgvsc: ENST00000585661.1:c.226C>T
  hgvsp: ENST00000585661.1:c.226C>T(p.%3D)
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000466103
  ensembl transcript: ENST00000593233
  gene symbol: NDUFA11
  hgvsc: ENST00000593233.1:c.*243C>T
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000465499
  ensembl transcript: ENST00000592091
  gene symbol: AC024592.12
  hgvsc: ENST00000592091.1:c.231C>T
  hgvsp: ENST00000592091.1:c.231C>T(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000311740
  ensembl transcript: ENST00000308961
  gene symbol: NDUFA11
  hgvsc: ENST00000308961.4:c.231C>T
  hgvsp: ENST00000308961.4:c.231C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130383
  ensembl protein: ENSP00000252675
  ensembl transcript: ENST00000252675
  gene symbol: FUT5
  hgvsc: ENST00000252675.5:c.-254C>T
  variant of: http://identifiers.org/hgnc/4016
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000466639
  ensembl transcript: ENST00000586349
  gene symbol: AC024592.12
  hgvsc: ENST00000586349.1:c.301C>T
  hgvsp: ENST00000586349.1:c.301C>T(p.%3D)
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000389160
  ensembl transcript: ENST00000418389
  gene symbol: NDUFA11
  hgvsc: ENST00000418389.2:c.231C>T
  hgvsp: ENST00000418389.2:c.231C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000467706
  ensembl transcript: ENST00000592634
  gene symbol: NDUFA11
  hgvsc: ENST00000592634.1:c.231C>T
  hgvsp: ENST00000592634.1:c.231C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174886
  ensembl transcript: ENST00000591341
  gene symbol: NDUFA11
  hgvsc: ENST00000591341.1:n.147C>T
  variant of: http://identifiers.org/hgnc/20371
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3131
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25401
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2713
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20729
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6262
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2222
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7674
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3275
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser101Ser
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD

19-5896564-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5896564
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5896564
    reference: chr 19
allele count: 1
allele frequency: 4.016064257028112e-5
allele num: 24900
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174886
  ensembl transcript: ENST00000591341
  gene symbol: NDUFA11
  hgvsc: ENST00000591341.1:n.129C>T
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000467706
  ensembl transcript: ENST00000592634
  gene symbol: NDUFA11
  hgvsc: ENST00000592634.1:c.213C>T
  hgvsp: ENST00000592634.1:c.213C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000467210
  ensembl transcript: ENST00000585661
  gene symbol: AC024592.12
  hgvsc: ENST00000585661.1:c.208C>T
  hgvsp: ENST00000585661.1:c.208C>T(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000311740
  ensembl transcript: ENST00000308961
  gene symbol: NDUFA11
  hgvsc: ENST00000308961.4:c.213C>T
  hgvsp: ENST00000308961.4:c.213C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130383
  ensembl protein: ENSP00000252675
  ensembl transcript: ENST00000252675
  gene symbol: FUT5
  hgvsc: ENST00000252675.5:c.-272C>T
  variant of: http://identifiers.org/hgnc/4016
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000465499
  ensembl transcript: ENST00000592091
  gene symbol: AC024592.12
  hgvsc: ENST00000592091.1:c.213C>T
  hgvsp: ENST00000592091.1:c.213C>T(p.%3D)
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000389160
  ensembl transcript: ENST00000418389
  gene symbol: NDUFA11
  hgvsc: ENST00000418389.2:c.213C>T
  hgvsp: ENST00000418389.2:c.213C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000466639
  ensembl transcript: ENST00000586349
  gene symbol: AC024592.12
  hgvsc: ENST00000586349.1:c.283C>T
  hgvsp: ENST00000586349.1:c.283C>T(p.%3D)
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000466103
  ensembl transcript: ENST00000593233
  gene symbol: NDUFA11
  hgvsc: ENST00000593233.1:c.*225C>T
  variant of: http://identifiers.org/hgnc/20371
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23342
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22926
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5939
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2959
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2685
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1447
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly95Gly
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP

19-5896572-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5896572
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5896572
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 24484
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000467706
  ensembl transcript: ENST00000592634
  gene symbol: NDUFA11
  hgvsc: ENST00000592634.1:c.205G>A
  hgvsp: ENSP00000467706.1:p.Val69Met
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000389160
  ensembl transcript: ENST00000418389
  gene symbol: NDUFA11
  hgvsc: ENST00000418389.2:c.205G>A
  hgvsp: ENSP00000389160.1:p.Val69Met
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000467210
  ensembl transcript: ENST00000585661
  gene symbol: AC024592.12
  hgvsc: ENST00000585661.1:c.200G>A
  hgvsp: ENSP00000467210.1:p.Val68Met
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130383
  ensembl protein: ENSP00000252675
  ensembl transcript: ENST00000252675
  gene symbol: FUT5
  hgvsc: ENST00000252675.5:c.-280G>A
  variant of: http://identifiers.org/hgnc/4016
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000311740
  ensembl transcript: ENST00000308961
  gene symbol: NDUFA11
  hgvsc: ENST00000308961.4:c.205G>A
  hgvsp: ENSP00000311740.3:p.Val69Met
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000465499
  ensembl transcript: ENST00000592091
  gene symbol: AC024592.12
  hgvsc: ENST00000592091.1:c.205G>A
  hgvsp: ENSP00000465499.1:p.Val69Met
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000466103
  ensembl transcript: ENST00000593233
  gene symbol: NDUFA11
  hgvsc: ENST00000593233.1:c.*217G>A
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000466639
  ensembl transcript: ENST00000586349
  gene symbol: AC024592.12
  hgvsc: ENST00000586349.1:c.275G>A
  hgvsp: ENSP00000466639.1:p.Val93Met
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174886
  ensembl transcript: ENST00000591341
  gene symbol: NDUFA11
  hgvsc: ENST00000591341.1:n.121G>A
  variant of: http://identifiers.org/hgnc/20371
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2687
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5878
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2797
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23586
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22830
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22918
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18824
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 3.25e1
  variant carriers: 1
hgvs: p.Val93Met
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

19-5896573-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5896573
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5896573
    reference: chr 19
allele count: 1
allele frequency: 4.095339503644852e-5
allele num: 24418
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000465499
  ensembl transcript: ENST00000592091
  gene symbol: AC024592.12
  hgvsc: ENST00000592091.1:c.204C>T
  hgvsp: ENST00000592091.1:c.204C>T(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000467706
  ensembl transcript: ENST00000592634
  gene symbol: NDUFA11
  hgvsc: ENST00000592634.1:c.204C>T
  hgvsp: ENST00000592634.1:c.204C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000467210
  ensembl transcript: ENST00000585661
  gene symbol: AC024592.12
  hgvsc: ENST00000585661.1:c.199C>T
  hgvsp: ENST00000585661.1:c.199C>T(p.%3D)
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130383
  ensembl protein: ENSP00000252675
  ensembl transcript: ENST00000252675
  gene symbol: FUT5
  hgvsc: ENST00000252675.5:c.-281C>T
  variant of: http://identifiers.org/hgnc/4016
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000389160
  ensembl transcript: ENST00000418389
  gene symbol: NDUFA11
  hgvsc: ENST00000418389.2:c.204C>T
  hgvsp: ENST00000418389.2:c.204C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000311740
  ensembl transcript: ENST00000308961
  gene symbol: NDUFA11
  hgvsc: ENST00000308961.4:c.204C>T
  hgvsp: ENST00000308961.4:c.204C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000466639
  ensembl transcript: ENST00000586349
  gene symbol: AC024592.12
  hgvsc: ENST00000586349.1:c.274C>T
  hgvsp: ENST00000586349.1:c.274C>T(p.%3D)
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174886
  ensembl transcript: ENST00000591341
  gene symbol: NDUFA11
  hgvsc: ENST00000591341.1:n.120C>T
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000466103
  ensembl transcript: ENST00000593233
  gene symbol: NDUFA11
  hgvsc: ENST00000593233.1:c.*216C>T
  variant of: http://identifiers.org/hgnc/20371
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23801
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2687
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2736
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22670
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5871
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18794
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala92Ala
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/19-5896581-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5896581
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5896581
    reference: chr 19
allele count: 4
allele frequency: 1.672520488375982e-4
allele num: 23916
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000311740
  ensembl transcript: ENST00000308961
  gene symbol: NDUFA11
  hgvsc: ENST00000308961.4:c.196G>T
  hgvsp: ENSP00000311740.3:p.Val66Phe
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000467210
  ensembl transcript: ENST00000585661
  gene symbol: AC024592.12
  hgvsc: ENST00000585661.1:c.191G>T
  hgvsp: ENSP00000467210.1:p.Val65Phe
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000467706
  ensembl transcript: ENST00000592634
  gene symbol: NDUFA11
  hgvsc: ENST00000592634.1:c.196G>T
  hgvsp: ENSP00000467706.1:p.Val66Phe
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174886
  ensembl transcript: ENST00000591341
  gene symbol: NDUFA11
  hgvsc: ENST00000591341.1:n.112G>T
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000466639
  ensembl transcript: ENST00000586349
  gene symbol: AC024592.12
  hgvsc: ENST00000586349.1:c.266G>T
  hgvsp: ENSP00000466639.1:p.Val90Phe
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000466103
  ensembl transcript: ENST00000593233
  gene symbol: NDUFA11
  hgvsc: ENST00000593233.1:c.*208G>T
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000465499
  ensembl transcript: ENST00000592091
  gene symbol: AC024592.12
  hgvsc: ENST00000592091.1:c.196G>T
  hgvsp: ENSP00000465499.1:p.Val66Phe
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130383
  ensembl protein: ENSP00000252675
  ensembl transcript: ENST00000252675
  gene symbol: FUT5
  hgvsc: ENST00000252675.5:c.-289G>T
  variant of: http://identifiers.org/hgnc/4016
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000389160
  ensembl transcript: ENST00000418389
  gene symbol: NDUFA11
  hgvsc: ENST00000418389.2:c.196G>T
  hgvsp: ENSP00000389160.1:p.Val66Phe
  variant of: http://identifiers.org/hgnc/20371
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2587
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5804
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24896
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21732
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2645
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 7224
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1109
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24402
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Val90Phe
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

19-5896590-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5896590
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5896590
    reference: chr 19
allele count: 1
allele frequency: 4.403734366742998e-5
allele num: 22708
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000467706
  ensembl transcript: ENST00000592634
  gene symbol: NDUFA11
  hgvsc: ENST00000592634.1:c.191-4G>A
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000389160
  ensembl transcript: ENST00000418389
  gene symbol: NDUFA11
  hgvsc: ENST00000418389.2:c.191-4G>A
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174886
  ensembl transcript: ENST00000591341
  gene symbol: NDUFA11
  hgvsc: ENST00000591341.1:n.103G>A
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000466639
  ensembl transcript: ENST00000586349
  gene symbol: AC024592.12
  hgvsc: ENST00000586349.1:c.257G>A
  hgvsp: ENSP00000466639.1:p.Ala87Thr
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000465499
  ensembl transcript: ENST00000592091
  gene symbol: AC024592.12
  hgvsc: ENST00000592091.1:c.191-4G>A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000311740
  ensembl transcript: ENST00000308961
  gene symbol: NDUFA11
  hgvsc: ENST00000308961.4:c.191-4G>A
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000467210
  ensembl transcript: ENST00000585661
  gene symbol: AC024592.12
  hgvsc: ENST00000585661.1:c.186-4G>A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130383
  ensembl protein: ENSP00000252675
  ensembl transcript: ENST00000252675
  gene symbol: FUT5
  hgvsc: ENST00000252675.5:c.-294-4G>A
  variant of: http://identifiers.org/hgnc/4016
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000466103
  ensembl transcript: ENST00000593233
  gene symbol: NDUFA11
  hgvsc: ENST00000593233.1:c.*203-4G>A
  variant of: http://identifiers.org/hgnc/20371
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2409
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2593
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5626
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18906
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27521
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1958
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6909
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1089
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala87Thr
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP

19-5896591-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5896591
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5896591
    reference: chr 19
allele count: 3
allele frequency: 1.316135825217162e-4
allele num: 22794
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000466639
  ensembl transcript: ENST00000586349
  gene symbol: AC024592.12
  hgvsc: ENST00000586349.1:c.256C>T
  hgvsp: ENST00000586349.1:c.256C>T(p.%3D)
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000311740
  ensembl transcript: ENST00000308961
  gene symbol: NDUFA11
  hgvsc: ENST00000308961.4:c.191-5C>T
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000467210
  ensembl transcript: ENST00000585661
  gene symbol: AC024592.12
  hgvsc: ENST00000585661.1:c.186-5C>T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000467706
  ensembl transcript: ENST00000592634
  gene symbol: NDUFA11
  hgvsc: ENST00000592634.1:c.191-5C>T
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000389160
  ensembl transcript: ENST00000418389
  gene symbol: NDUFA11
  hgvsc: ENST00000418389.2:c.191-5C>T
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000466103
  ensembl transcript: ENST00000593233
  gene symbol: NDUFA11
  hgvsc: ENST00000593233.1:c.*203-5C>T
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174886
  ensembl transcript: ENST00000591341
  gene symbol: NDUFA11
  hgvsc: ENST00000591341.1:n.102C>T
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000465499
  ensembl transcript: ENST00000592091
  gene symbol: AC024592.12
  hgvsc: ENST00000592091.1:c.191-5C>T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130383
  ensembl protein: ENSP00000252675
  ensembl transcript: ENST00000252675
  gene symbol: FUT5
  hgvsc: ENST00000252675.5:c.-294-5C>T
  variant of: http://identifiers.org/hgnc/4016
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5651
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27569
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18937
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2578
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2391
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 6991
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
hgvs: c.191-5C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum

19-5896594-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5896594
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5896594
    reference: chr 19
allele count: 1
allele frequency: 4.393673110720563e-5
allele num: 22760
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000467706
  ensembl transcript: ENST00000592634
  gene symbol: NDUFA11
  hgvsc: ENST00000592634.1:c.191-8C>T
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000389160
  ensembl transcript: ENST00000418389
  gene symbol: NDUFA11
  hgvsc: ENST00000418389.2:c.191-8C>T
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000466103
  ensembl transcript: ENST00000593233
  gene symbol: NDUFA11
  hgvsc: ENST00000593233.1:c.*203-8C>T
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000467210
  ensembl transcript: ENST00000585661
  gene symbol: AC024592.12
  hgvsc: ENST00000585661.1:c.186-8C>T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000311740
  ensembl transcript: ENST00000308961
  gene symbol: NDUFA11
  hgvsc: ENST00000308961.4:c.191-8C>T
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000465499
  ensembl transcript: ENST00000592091
  gene symbol: AC024592.12
  hgvsc: ENST00000592091.1:c.191-8C>T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130383
  ensembl protein: ENSP00000252675
  ensembl transcript: ENST00000252675
  gene symbol: FUT5
  hgvsc: ENST00000252675.5:c.-294-8C>T
  variant of: http://identifiers.org/hgnc/4016
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000466639
  ensembl transcript: ENST00000586349
  gene symbol: AC024592.12
  hgvsc: ENST00000586349.1:c.253C>T
  hgvsp: ENST00000586349.1:c.253C>T(p.%3D)
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174886
  ensembl transcript: ENST00000591341
  gene symbol: NDUFA11
  hgvsc: ENST00000591341.1:n.99C>T
  variant of: http://identifiers.org/hgnc/20371
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27841
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18839
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2276
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5654
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2572
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 3.75e1
  variant carriers: 0
hgvs: c.191-8C>T
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum

19-5896598-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5896598
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5896598
    reference: chr 19
allele count: 1
allele frequency: 4.465880671668453e-5
allele num: 22392
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000467210
  ensembl transcript: ENST00000585661
  gene symbol: AC024592.12
  hgvsc: ENST00000585661.1:c.186-12T>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000466103
  ensembl transcript: ENST00000593233
  gene symbol: NDUFA11
  hgvsc: ENST00000593233.1:c.*203-12T>C
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000466639
  ensembl transcript: ENST00000586349
  gene symbol: AC024592.12
  hgvsc: ENST00000586349.1:c.249T>C
  hgvsp: ENSP00000466639.1:p.Val84Ala
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000389160
  ensembl transcript: ENST00000418389
  gene symbol: NDUFA11
  hgvsc: ENST00000418389.2:c.191-12T>C
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174886
  ensembl transcript: ENST00000591341
  gene symbol: NDUFA11
  hgvsc: ENST00000591341.1:n.95T>C
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000465499
  ensembl transcript: ENST00000592091
  gene symbol: AC024592.12
  hgvsc: ENST00000592091.1:c.191-12T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000467706
  ensembl transcript: ENST00000592634
  gene symbol: NDUFA11
  hgvsc: ENST00000592634.1:c.191-12T>C
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130383
  ensembl protein: ENSP00000252675
  ensembl transcript: ENST00000252675
  gene symbol: FUT5
  hgvsc: ENST00000252675.5:c.-294-12T>C
  variant of: http://identifiers.org/hgnc/4016
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000311740
  ensembl transcript: ENST00000308961
  gene symbol: NDUFA11
  hgvsc: ENST00000308961.4:c.191-12T>C
  variant of: http://identifiers.org/hgnc/20371
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2549
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2142
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28601
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5632
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18094
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1402
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27938
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Val84Ala
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff

19-5896599-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5896599
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5896599
    reference: chr 19
allele count: 1
allele frequency: 4.492362982929021e-5
allele num: 22260
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174886
  ensembl transcript: ENST00000591341
  gene symbol: NDUFA11
  hgvsc: ENST00000591341.1:n.94G>A
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000466103
  ensembl transcript: ENST00000593233
  gene symbol: NDUFA11
  hgvsc: ENST00000593233.1:c.*203-13G>A
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000311740
  ensembl transcript: ENST00000308961
  gene symbol: NDUFA11
  hgvsc: ENST00000308961.4:c.191-13G>A
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000389160
  ensembl transcript: ENST00000418389
  gene symbol: NDUFA11
  hgvsc: ENST00000418389.2:c.191-13G>A
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174886
  ensembl protein: ENSP00000467706
  ensembl transcript: ENST00000592634
  gene symbol: NDUFA11
  hgvsc: ENST00000592634.1:c.191-13G>A
  variant of: http://identifiers.org/hgnc/20371
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000466639
  ensembl transcript: ENST00000586349
  gene symbol: AC024592.12
  hgvsc: ENST00000586349.1:c.248G>A
  hgvsp: ENSP00000466639.1:p.Val84Ile
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000465499
  ensembl transcript: ENST00000592091
  gene symbol: AC024592.12
  hgvsc: ENST00000592091.1:c.191-13G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130383
  ensembl protein: ENSP00000252675
  ensembl transcript: ENST00000252675
  gene symbol: FUT5
  hgvsc: ENST00000252675.5:c.-294-13G>A
  variant of: http://identifiers.org/hgnc/4016
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267740
  ensembl protein: ENSP00000467210
  ensembl transcript: ENST00000585661
  gene symbol: AC024592.12
  hgvsc: ENST00000585661.1:c.186-13G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2543
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2143
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5617
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28759
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val84Ile
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 463
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2099
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1157
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 73
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 410
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12904
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 616
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 5.837711617046118e-4
allele num: 3426
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47332
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7546
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.265822784810127e-4
allele num: 7900
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6258
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.571e0

MQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

FS
type: SiteQuality
SIO_000300: 2.363e0

QD
type: SiteQuality
SIO_000300: 2.991e1

DP
type: SiteQuality
SIO_000300: 9.94521e5

VQSLOD
type: SiteQuality
SIO_000300: -2.108e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.55e-1

GenotypeQuality
all individuals: 645
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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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: 2

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6092
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12750
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 598
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3348
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7662
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.321334428071388e-5
allele num: 46282
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7434
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.052e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.045e1

DP
type: SiteQuality
SIO_000300: 9.76595e5

BaseQRankSum
type: SiteQuality
SIO_000300: 1.45e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.6e-3

FS
type: SiteQuality
SIO_000300: 1.0614e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

MQRankSum
type: SiteQuality
SIO_000300: 8.75e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.84e-1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.324324324324324e-5
allele num: 46250
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6082
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7426
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12768
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7650
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3350
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.581e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.04e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.54e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.17e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.53e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.5e-3

VQSLOD
type: SiteQuality
SIO_000300: -3.11e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 9.7413e5

GenotypeQuality
all individuals: 450
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 2.5e0
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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: 7.5e0
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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
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3300
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.872775940796725e-5
allele num: 12702
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7374
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7536
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45906
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6042
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.263999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.4e-3

QD
type: SiteQuality
SIO_000300: 9.390000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.18e0

DP
type: SiteQuality
SIO_000300: 9.62915e5

MQRankSum
type: SiteQuality
SIO_000300: 8.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.3e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -5.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -9.9e-2

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 14

GenotypeQuality
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GenotypeQuality
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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: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2481
bin: 2.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3166
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5868
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 586
num of homozygotes: 0

South Asian
type: Population
allele count: 12
allele frequency: 9.558706388402103e-4
allele num: 12554
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.477678771324945e-5
allele num: 44666
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7198
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7216
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.51e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.75e0

QD
type: SiteQuality
SIO_000300: 1.28e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.3e-2

DP
type: SiteQuality
SIO_000300: 9.35905e5

FS
type: SiteQuality
SIO_000300: 7.2e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.54e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.65e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2000
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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: 1116
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7150
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7102
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3110
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5794
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.4092515258593e-4
allele num: 12452
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44276
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 588
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.19e-1

QD
type: SiteQuality
SIO_000300: 1.045e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.953e0

FS
type: SiteQuality
SIO_000300: 5.762e0

DP
type: SiteQuality
SIO_000300: 9.3451e5

MQ
type: SiteQuality
SIO_000300: 5.958e1

VQSLOD
type: SiteQuality
SIO_000300: 6.54e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.07e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.81e-1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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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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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5492
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2946
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 556
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6634
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12170
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6818
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.38106576503643e-5
allele num: 41998
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 8.7561e5

VQSLOD
type: SiteQuality
SIO_000300: 9.02e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.48e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.56e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.9e-2

FS
type: SiteQuality
SIO_000300: 5.431e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 6.73e-1

QD
type: SiteQuality
SIO_000300: 1.372e1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 556
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2946
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12170
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6634
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5492
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6818
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.38106576503643e-5
allele num: 41998
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.73e-1

QD
type: SiteQuality
SIO_000300: 1.372e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.9e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 9.02e-1

FS
type: SiteQuality
SIO_000300: 5.431e0

DP
type: SiteQuality
SIO_000300: 8.7561e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.56e-1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 270
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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bin: 8.25e1
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GenotypeQuality
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bin: 4.75e1
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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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bin: 7.5e0
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 3.75e1
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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: 5144
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 532
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11818
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.526717557251908e-4
allele num: 6550
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2780
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 39712
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6156
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.018e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.55e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.94e-1

DP
type: SiteQuality
SIO_000300: 8.33099e5

MQRankSum
type: SiteQuality
SIO_000300: -3.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.299999999999999e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.199999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.221e0

FS
type: SiteQuality
SIO_000300: 1.1167e1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 330
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 313
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.528572873470214e-5
allele num: 39548
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 534
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5134
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11826
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6128
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 7.215007215007215e-4
allele num: 2772
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.419e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.36e-1

DP
type: SiteQuality
SIO_000300: 8.30687e5

ClippingRankSum
type: SiteQuality
SIO_000300: -2.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.2e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.2e-2

QD
type: SiteQuality
SIO_000300: 7.23e0

VQSLOD
type: SiteQuality
SIO_000300: -7.352e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 2830
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5154
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6132
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11824
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.521940885705639e-5
allele num: 39652
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 528
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2774
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.305e0

DP
type: SiteQuality
SIO_000300: 8.28509e5

MQRankSum
type: SiteQuality
SIO_000300: -1.034e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.800000000000001e-3

VQSLOD
type: SiteQuality
SIO_000300: -9.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.78e-1

QD
type: SiteQuality
SIO_000300: 7.11e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.96e-1

GenotypeQuality
all individuals: 4748
bin: 7.5e0
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
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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: 2999
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variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5340
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6012
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2386
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 8.353288411204544e-5
allele num: 35914
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4642
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 502
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11134
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.28e-2

MQRankSum
type: SiteQuality
SIO_000300: -3.87e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.76e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.649999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.337e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 7.64186e5

ClippingRankSum
type: SiteQuality
SIO_000300: 6.12e-1

GenotypeQuality
all individuals: 2225
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1216
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 165
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variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4556
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.04649900488511e-5
allele num: 11054
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5238
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 35394
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.67897918065816e-4
allele num: 5956
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2382
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 496
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.207e1

VQSLOD
type: SiteQuality
SIO_000300: 8.110000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.65e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.41e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.28e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.366e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.090000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.28e0

DP
type: SiteQuality
SIO_000300: 7.53774e5

GenotypeQuality
all individuals: 2225
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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
all individuals: 49
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variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 31850
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2024
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5496
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4520
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 458
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3974
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10442
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.78e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.56e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 6.98146e5

QD
type: SiteQuality
SIO_000300: 1.464e1

FS
type: SiteQuality
SIO_000300: 1.445e0

MQRankSum
type: SiteQuality
SIO_000300: 1.62e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.014e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.85e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.09e-2

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 77
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variant carriers: 0

GenotypeQuality
all individuals: 1182
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4524
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.149804712107849e-5
allele num: 31748
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 466
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3960
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2000
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5496
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10420
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.702e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.59e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 6.3e-2

MQRankSum
type: SiteQuality
SIO_000300: 5.28e-1

DP
type: SiteQuality
SIO_000300: 6.94933e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.914e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.035e0

QD
type: SiteQuality
SIO_000300: 5.06e0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3800
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.242331885091758e-5
allele num: 30842
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10244
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 452
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4360
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5390
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1934
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.870000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.87e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.06e-1

DP
type: SiteQuality
SIO_000300: 6.82949e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.93e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.71e-2

QD
type: SiteQuality
SIO_000300: 1.129e1

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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bin: 2.25e1
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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: 1.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3700
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 2.202643171806168e-3
allele num: 454
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4316
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1914
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30508
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5330
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10168
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.81e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.94e-1

DP
type: SiteQuality
SIO_000300: 6.78123e5

BaseQRankSum
type: SiteQuality
SIO_000300: -2.44e-1

QD
type: SiteQuality
SIO_000300: 1.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.58e-2

ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.44e-1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 77
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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
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 341
bin: 9.75e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.277828766225252e-5
allele num: 30508
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3700
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 454
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1914
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.31696014828545e-4
allele num: 4316
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 5330
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10168
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.44e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.44e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.01e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.81e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.58e-2

DP
type: SiteQuality
SIO_000300: 6.78123e5

QD
type: SiteQuality
SIO_000300: 1.0e1

GenotypeQuality
all individuals: 884
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 4780
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 402
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9466
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1536
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3048
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.725227238861571e-5
allele num: 26844
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 3476
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.25e0

VQSLOD
type: SiteQuality
SIO_000300: -1.581e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.71e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: -3.308e0

MQRankSum
type: SiteQuality
SIO_000300: -9.22e-1

DP
type: SiteQuality
SIO_000300: 6.17253e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-2

QD
type: SiteQuality
SIO_000300: 6.07e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1448
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 3.491620111731844e-4
allele num: 2864
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4624
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9262
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 384
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3222
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 25794
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.074e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.52e-2

VQSLOD
type: SiteQuality
SIO_000300: -6.352e-1

DP
type: SiteQuality
SIO_000300: 5.97423e5

MQRankSum
type: SiteQuality
SIO_000300: 1.79e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.56e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.4e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.431e0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 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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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4070
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2160
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1086
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 312
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8534
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 1.857010213556174e-4
allele num: 21540
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2404
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.52e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.87e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.84e-1

FS
type: SiteQuality
SIO_000300: 3.067e0

DP
type: SiteQuality
SIO_000300: 5.3915e5

BaseQRankSum
type: SiteQuality
SIO_000300: 2.14e0

MQRankSum
type: SiteQuality
SIO_000300: 4.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.21e-2

QD
type: SiteQuality
SIO_000300: 1.153e1

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
all individuals: 202
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GenotypeQuality
all individuals: 737
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variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 2.486325211337643e-4
allele num: 4022
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2332
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1046
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 312
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.774181227919412e-5
allele num: 20946
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8474
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2076
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.098e0

VQSLOD
type: SiteQuality
SIO_000300: 3.4e-2

DP
type: SiteQuality
SIO_000300: 5.3153e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.911e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.31e-2

QD
type: SiteQuality
SIO_000300: 2.466e1

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.7e-1

GenotypeQuality
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bin: 4.25e1
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
all individuals: 2192
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GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 290
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

African
type: Population
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: 1774
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1998
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8066
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 18926
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e0

DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.57e-2

QD
type: SiteQuality
SIO_000300: 1.415e1

VQSLOD
type: SiteQuality
SIO_000300: 8.61e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1352
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 506
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.875215641173088e-4
allele num: 6956
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African
type: Population
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
allele num: 15020
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East Asian
type: Population
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allele frequency: 7.94912559618442e-4
allele num: 1258
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.213e1

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 3.2e-2

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 4.6185e5

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 13402
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3096
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 404
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 1164
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 1080
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South Asian
type: Population
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Other
type: Population
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
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MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
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VQSLOD
type: SiteQuality
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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: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 7.461572899567229e-5
allele num: 13402
num of homozygotes: 0

Latino
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allele num: 1164
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.567889620570712e-4
allele num: 6378
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 404
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African
type: Population
allele count: 1
allele frequency: 3.229974160206718e-4
allele num: 3096
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1080
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 220
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 3.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1054
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12484
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 378
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6010
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 208
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1022
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3006
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e-1

QD
type: SiteQuality
SIO_000300: 1.096e1

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.78e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

DP
type: SiteQuality
SIO_000300: 4.50613e5

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.49e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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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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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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bin: 4.75e1
variant carriers: 1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 826
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 4.170141784820684e-4
allele num: 2398
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2908
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 962
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.42675e5

VQSLOD
type: SiteQuality
SIO_000300: -2.101e0

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -9.379999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.17e-1

QD
type: SiteQuality
SIO_000300: 1.32e0

MQ
type: SiteQuality
SIO_000300: 5.79e1

GenotypeQuality
all individuals: 600
bin: 6.25e1
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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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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bin: 9.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 186
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 982
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2514
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3002
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.65e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.36e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.75e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 7.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

DP
type: SiteQuality
SIO_000300: 2.47836e5

VQSLOD
type: SiteQuality
SIO_000300: -2.193e0

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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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1556
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 396
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5464
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 2.976190476190476e-3
allele num: 1344
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6324
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 80
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 136
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.51e-1

QD
type: SiteQuality
SIO_000300: 7.26e0

FS
type: SiteQuality
SIO_000300: 6.049e0

VQSLOD
type: SiteQuality
SIO_000300: -1.324e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.06e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.85e-1

DP
type: SiteQuality
SIO_000300: 3.81188e5

MQ
type: SiteQuality
SIO_000300: 5.838e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.96e-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
all individuals: 791
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GenotypeQuality
all individuals: 280
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1864
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 634
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 216
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6808
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2184
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 9.848335631278314e-5
allele num: 10154
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.340000000000001e-1

DP
type: SiteQuality
SIO_000300: 3.91155e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 2.634e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.2e-2

FS
type: SiteQuality
SIO_000300: 1.249e0

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.537e0

VQSLOD
type: SiteQuality
SIO_000300: -8.454e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.95e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 47
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GenotypeQuality
all individuals: 16
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 152
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1292
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1510
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6522
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 444
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5560
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 74
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.42e-1

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -8.98e-1

FS
type: SiteQuality
SIO_000300: 2.2424e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.42e-1

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 4.02215e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.59e-2

MQ
type: SiteQuality
SIO_000300: 5.895e1

GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.171582619727244e-4
allele num: 6306
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 1.251564455569462e-3
allele num: 1598
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 444
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 6.868131868131869e-4
allele num: 1456
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 160
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 106
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.96303e2

DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 5.5e-1

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.895e1

QD
type: SiteQuality
SIO_000300: 3.4e-1

MQRankSum
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 7.26e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.24e-1

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1456
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7100
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.171582619727244e-4
allele num: 6306
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 444
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 106
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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allele num: 160
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
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VQSLOD
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MQ
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FS
type: SiteQuality
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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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African
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allele count: 0
allele frequency: 0.0e0
allele num: 2180
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 260
num of homozygotes: 0

South Asian
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num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2540
num of homozygotes: 0

Latino
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: 8.592541673827119e-5
allele num: 11638
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 214
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.18e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.18e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.905e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.45e-2

QD
type: SiteQuality
SIO_000300: 1.96e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e-1

DP
type: SiteQuality
SIO_000300: 4.45136e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.06e0

GenotypeQuality
all individuals: 251
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2729
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 840
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1367
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 212
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2500
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2180
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 680
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7878
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 8.984725965858041e-5
allele num: 11130
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 232
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.7187e1

DP
type: SiteQuality
SIO_000300: 4.60484e5

QD
type: SiteQuality
SIO_000300: 3.316e1

MQRankSum
type: SiteQuality
SIO_000300: 5.05e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.026e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.94e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 4.11e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.917e0

GenotypeQuality
all individuals: 19777
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1341
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11894
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8038
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 222
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2344
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 252
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2666
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 762
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.22e-1

DP
type: SiteQuality
SIO_000300: 4.70263e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.221e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.82e0

VQSLOD
type: SiteQuality
SIO_000300: -5.629e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.17e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.221e0

GenotypeQuality
all individuals: 19713
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 4.75e1
variant carriers: 1

GenotypeQuality
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bin: 5.25e1
variant carriers: 3

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 245
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6234
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 6
allele frequency: 2.252252252252252e-3
allele num: 2664
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 264
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2550
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12164
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 224
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 750
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8286
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.09e0

DP
type: SiteQuality
SIO_000300: 4.90456e5

VQSLOD
type: SiteQuality
SIO_000300: 1.94e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.57e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.41e-2

FS
type: SiteQuality
SIO_000300: 6.77e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

GenotypeQuality
all individuals: 21176
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 949
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
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variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1287
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1435
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 245
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 750
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2550
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.206854936036688e-4
allele num: 8286
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 224
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 264
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2664
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12164
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.41e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.72e-1

FS
type: SiteQuality
SIO_000300: 6.77e-1

DP
type: SiteQuality
SIO_000300: 4.90456e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.94e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.57e-1

QD
type: SiteQuality
SIO_000300: 8.09e0

GenotypeQuality
all individuals: 121
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 288
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 4.75e1
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GenotypeQuality
all individuals: 43
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 6560
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 974
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1272
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variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 455
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variant carriers: 0

GenotypeQuality
all individuals: 22499
bin: 2.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 772
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2648
num of homozygotes: 0

East Asian
type: Population
allele count: 5
allele frequency: 1.86150409530901e-3
allele num: 2686
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12418
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 234
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8374
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 270
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.94e-2

MQ
type: SiteQuality
SIO_000300: 5.871e1

MQRankSum
type: SiteQuality
SIO_000300: 4.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.3e0

VQSLOD
type: SiteQuality
SIO_000300: -1.226e0

QD
type: SiteQuality
SIO_000300: 5.24e0

FS
type: SiteQuality
SIO_000300: 1.836e0

DP
type: SiteQuality
SIO_000300: 4.9983e5

GenotypeQuality
all individuals: 153
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 8.75e1
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GenotypeQuality
all individuals: 416
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 295
bin: 7.25e1
variant carriers: 2

GenotypeQuality
all individuals: 6881
bin: 6.25e1
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GenotypeQuality
all individuals: 71
bin: 9.75e1
variant carriers: 36

GenotypeQuality
all individuals: 254
bin: 7.75e1
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GenotypeQuality
all individuals: 2078
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 8.25e1
variant carriers: 3

GenotypeQuality
all individuals: 31
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 23278
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1771
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1233
bin: 2.75e1
variant carriers: 2

GenotypeQuality
all individuals: 116
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 990
bin: 6.75e1
variant carriers: 3

European (Non-Finnish)
type: Population
allele count: 36
allele frequency: 2.823086574654956e-3
allele num: 12752
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 270
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 814
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 3.55366027007818e-4
allele num: 2814
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2678
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 236
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.180358829084042e-4
allele num: 8472
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.49e0

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.5e-2

DP
type: SiteQuality
SIO_000300: 5.11045e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.14e-2

MQ
type: SiteQuality
SIO_000300: 5.964e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.4e-1

QD
type: SiteQuality
SIO_000300: 1.112e1

GenotypeQuality
all individuals: 1233
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18855
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GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 4.75e1
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GenotypeQuality
all individuals: 1016
bin: 3.25e1
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 416
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 295
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1771
bin: 1.25e1
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
all individuals: 31
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GenotypeQuality
all individuals: 990
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 8.75e1
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GenotypeQuality
all individuals: 71
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2814
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 814
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 270
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 236
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2678
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 7.841907151819322e-5
allele num: 12752
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.14e-2

MQ
type: SiteQuality
SIO_000300: 5.964e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.49e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.5e-2

QD
type: SiteQuality
SIO_000300: 1.112e1

DP
type: SiteQuality
SIO_000300: 5.11045e5

BaseQRankSum
type: SiteQuality
SIO_000300: -3.4e-1

GenotypeQuality
all individuals: 987
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 123
bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
all individuals: 1999
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GenotypeQuality
all individuals: 1002
bin: 3.25e1
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GenotypeQuality
all individuals: 36
bin: 9.75e1
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GenotypeQuality
all individuals: 98
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GenotypeQuality
all individuals: 1226
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GenotypeQuality
all individuals: 30
bin: 9.25e1
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GenotypeQuality
all individuals: 305
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GenotypeQuality
all individuals: 48
bin: 8.75e1
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GenotypeQuality
all individuals: 254
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 401
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7088
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2682
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2898
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 278
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12860
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 242
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.370000000000001e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.088e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.76e-2

MQ
type: SiteQuality
SIO_000300: 5.476e1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 5.14204e5

BaseQRankSum
type: SiteQuality
SIO_000300: -9.25e-1

QD
type: SiteQuality
SIO_000300: 2.66e0

GenotypeQuality
all individuals: 114
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1745
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 820
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South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

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

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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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: 3
allele frequency: 2.277212691665401e-4
allele num: 13174
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
allele num: 812
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 2648
num of homozygotes: 0

African
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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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num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 1.163873370577281e-4
allele num: 8592
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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

VQSLOD
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SIO_000300: -5.417e-1

BaseQRankSum
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ClippingRankSum
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SIO_000300: 9.25e-1

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

East Asian
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allele frequency: 0.0e0
allele num: 2620
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13206
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.161710037174721e-4
allele num: 8608
num of homozygotes: 0

Other
type: Population
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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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

African
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allele count: 0
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

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

European (Finnish)
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allele frequency: 0.0e0
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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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.67e-1

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 13468
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 1.25e-3
allele num: 800
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
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DP
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MQRankSum
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SIO_000300: 1.41e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.62e-2

MQ
type: SiteQuality
SIO_000300: 5.829e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.25e-1

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

Latino
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allele frequency: 0.0e0
allele num: 756
num of homozygotes: 0

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

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

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

FS
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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QD
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MQRankSum
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VQSLOD
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InbreedingCoeff
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SIO_000300: -3.76e-2

DP
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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
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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 frequency: 0.0e0
allele num: 238
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3384
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 7.828401440425865e-5
allele num: 12774
num of homozygotes: 0

East Asian
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allele frequency: 4.940711462450593e-4
allele num: 2024
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 270
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

ClippingRankSum
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QD
type: SiteQuality
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MQ
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BaseQRankSum
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SIO_000300: -5.99e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

InbreedingCoeff
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SIO_000300: -3.87e-2

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 6.69e-1

DP
type: SiteQuality
SIO_000300: 5.2229e5

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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allele frequency: 0.0e0
allele num: 240
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 7.747133560582585e-5
allele num: 12908
num of homozygotes: 0

Latino
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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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num of homozygotes: 0

East Asian
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allele count: 3
allele frequency: 1.476377952755905e-3
allele num: 2032
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 274
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8454
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 5.25562e5

VQSLOD
type: SiteQuality
SIO_000300: -1.711e0

FS
type: SiteQuality
SIO_000300: 7.412e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.7e-1

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -4.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.8e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.07e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.48e-1

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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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 12908
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2032
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3436
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 274
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 758
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8454
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.7e-1

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -4.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.07e-2

FS
type: SiteQuality
SIO_000300: 7.412e0

DP
type: SiteQuality
SIO_000300: 5.25562e5

MQRankSum
type: SiteQuality
SIO_000300: -4.04e-1

MQ
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 6.41e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.48e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 3378
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 242
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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East Asian
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FS
type: SiteQuality
SIO_000300: 5.112e0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 680
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12108
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 3298
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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South Asian
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allele frequency: 1.206563706563707e-4
allele num: 8288
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Other
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East Asian
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
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MQRankSum
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QD
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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num of homozygotes: 0

African
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Latino
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European (Non-Finnish)
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allele num: 12176
num of homozygotes: 0

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

South Asian
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 6.153846153846154e-4
allele num: 3250
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Other
type: Population
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Latino
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ReadPosRankSum
type: SiteQuality
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DP
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InbreedingCoeff
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FS
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BaseQRankSum
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QD
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VQSLOD
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ClippingRankSum
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MQ
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 656
num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 220
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
allele num: 3208
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European (Non-Finnish)
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allele frequency: 8.463100880162491e-5
allele num: 11816
num of homozygotes: 0

InbreedingCoeff
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DP
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MQ
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ReadPosRankSum
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QD
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BaseQRankSum
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MQRankSum
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FS
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ClippingRankSum
type: SiteQuality
SIO_000300: 5.2e-2

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

European (Finnish)
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allele frequency: 0.0e0
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Other
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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 frequency: 0.0e0
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VQSLOD
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BaseQRankSum
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QD
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InbreedingCoeff
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MQ
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SIO_000300: 6.0e1

ClippingRankSum
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MQRankSum
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FS
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ReadPosRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

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

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

Other
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allele frequency: 4.273504273504274e-3
allele num: 234
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

South Asian
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allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
SIO_000300: -7.27e-1

DP
type: SiteQuality
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VQSLOD
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QD
type: SiteQuality
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InbreedingCoeff
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MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.06e-1

FS
type: SiteQuality
SIO_000300: 1.335e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

MQ
type: SiteQuality
SIO_000300: 5.811e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 2940
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 10608
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Other
type: Population
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allele frequency: 0.0e0
allele num: 224
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Latino
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allele num: 642
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East Asian
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South Asian
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allele num: 8152
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QD
type: SiteQuality
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MQRankSum
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ReadPosRankSum
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FS
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MQ
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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DP
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
allele num: 568
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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Other
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South Asian
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African
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European (Finnish)
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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FS
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MQ
type: SiteQuality
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MQRankSum
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QD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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num of homozygotes: 0

Latino
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European (Finnish)
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East Asian
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African
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Other
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South Asian
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allele num: 8100
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VQSLOD
type: SiteQuality
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BaseQRankSum
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MQ
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MQRankSum
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QD
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InbreedingCoeff
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DP
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ReadPosRankSum
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FS
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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South Asian
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Latino
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East Asian
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African
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European (Non-Finnish)
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European (Finnish)
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
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MQ
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QD
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VQSLOD
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DP
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BaseQRankSum
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InbreedingCoeff
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FS
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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
all individuals: 15050
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1089
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8070
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2770
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1002
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 220
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 112
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9650
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.76056338028169e-3
allele num: 568
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 3.073e1

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

FS
type: SiteQuality
SIO_000300: 1.922e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -3.935e-1

DP
type: SiteQuality
SIO_000300: 4.47894e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.39e-2