6-105219040-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105219040
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 105219040
    reference: chr 6
allele count: 2
allele frequency: 1.651500388102591e-5
allele num: 121102
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000430898
  ensembl transcript: ENST00000517424
  gene symbol: HACE1
  hgvsc: ENST00000517424.1:c.*476+28A>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000358121
  ensembl transcript: ENST00000369125
  gene symbol: HACE1
  hgvsc: ENST00000369125.2:c.1566+12921A>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000517995
  gene symbol: HACE1
  hgvsc: ENST00000517995.1:n.725+28A>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000392425
  ensembl transcript: ENST00000416605
  gene symbol: HACE1
  hgvsc: ENST00000416605.2:c.*1873+28A>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000429520
  ensembl transcript: ENST00000518503
  gene symbol: HACE1
  hgvsc: ENST00000518503.1:c.658+28A>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000428110
  ensembl transcript: ENST00000518402
  gene symbol: HACE1
  hgvsc: ENST00000518402.1:c.514+28A>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000369127
  gene symbol: HACE1
  hgvsc: ENST00000369127.4:n.3232+28A>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000262903
  ensembl transcript: ENST00000262903
  gene symbol: HACE1
  hgvsc: ENST00000262903.4:c.2211+28A>G
  variant of: http://identifiers.org/hgnc/21033
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28304
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17604
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8236
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2035
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42504
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1851
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum

6-105219042-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105219042
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 105219042
    reference: chr 6
allele count: 1
allele frequency: 8.256138438929344e-6
allele num: 121122
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000428110
  ensembl transcript: ENST00000518402
  gene symbol: HACE1
  hgvsc: ENST00000518402.1:c.514+26C>T
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000369127
  gene symbol: HACE1
  hgvsc: ENST00000369127.4:n.3232+26C>T
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000262903
  ensembl transcript: ENST00000262903
  gene symbol: HACE1
  hgvsc: ENST00000262903.4:c.2211+26C>T
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000430898
  ensembl transcript: ENST00000517424
  gene symbol: HACE1
  hgvsc: ENST00000517424.1:c.*476+26C>T
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000517995
  gene symbol: HACE1
  hgvsc: ENST00000517995.1:n.725+26C>T
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000392425
  ensembl transcript: ENST00000416605
  gene symbol: HACE1
  hgvsc: ENST00000416605.2:c.*1873+26C>T
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000358121
  ensembl transcript: ENST00000369125
  gene symbol: HACE1
  hgvsc: ENST00000369125.2:c.1566+12919C>T
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000429520
  ensembl transcript: ENST00000518503
  gene symbol: HACE1
  hgvsc: ENST00000518503.1:c.658+26C>T
  variant of: http://identifiers.org/hgnc/21033
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2035
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17661
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28370
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8249
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1843
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7359
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 769
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/6-105219045-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105219045
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 105219045
    reference: chr 6
allele count: 1
allele frequency: 8.253549026081216e-6
allele num: 121160
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000517995
  gene symbol: HACE1
  hgvsc: ENST00000517995.1:n.725+23T>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000429520
  ensembl transcript: ENST00000518503
  gene symbol: HACE1
  hgvsc: ENST00000518503.1:c.658+23T>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000262903
  ensembl transcript: ENST00000262903
  gene symbol: HACE1
  hgvsc: ENST00000262903.4:c.2211+23T>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000369127
  gene symbol: HACE1
  hgvsc: ENST00000369127.4:n.3232+23T>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000358121
  ensembl transcript: ENST00000369125
  gene symbol: HACE1
  hgvsc: ENST00000369125.2:c.1566+12916T>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000428110
  ensembl transcript: ENST00000518402
  gene symbol: HACE1
  hgvsc: ENST00000518402.1:c.514+23T>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000430898
  ensembl transcript: ENST00000517424
  gene symbol: HACE1
  hgvsc: ENST00000517424.1:c.*476+23T>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000392425
  ensembl transcript: ENST00000416605
  gene symbol: HACE1
  hgvsc: ENST00000416605.2:c.*1873+23T>G
  variant of: http://identifiers.org/hgnc/21033
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8254
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2037
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17751
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28444
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3892
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1133
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42817
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7377
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: A
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

6-105219047-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105219047
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 105219047
    reference: chr 6
allele count: 1
allele frequency: 8.251097395953662e-6
allele num: 121196
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000428110
  ensembl transcript: ENST00000518402
  gene symbol: HACE1
  hgvsc: ENST00000518402.1:c.514+21C>T
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000429520
  ensembl transcript: ENST00000518503
  gene symbol: HACE1
  hgvsc: ENST00000518503.1:c.658+21C>T
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000430898
  ensembl transcript: ENST00000517424
  gene symbol: HACE1
  hgvsc: ENST00000517424.1:c.*476+21C>T
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000517995
  gene symbol: HACE1
  hgvsc: ENST00000517995.1:n.725+21C>T
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000369127
  gene symbol: HACE1
  hgvsc: ENST00000369127.4:n.3232+21C>T
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000392425
  ensembl transcript: ENST00000416605
  gene symbol: HACE1
  hgvsc: ENST00000416605.2:c.*1873+21C>T
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000262903
  ensembl transcript: ENST00000262903
  gene symbol: HACE1
  hgvsc: ENST00000262903.4:c.2211+21C>T
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000358121
  ensembl transcript: ENST00000369125
  gene symbol: HACE1
  hgvsc: ENST00000369125.2:c.1566+12914C>T
  variant of: http://identifiers.org/hgnc/21033
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8262
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2040
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28485
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17768
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1125
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3893
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7375
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 767
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

6-105219048-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105219048
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 105219048
    reference: chr 6
allele count: 3
allele frequency: 2.475165836111019e-5
allele num: 121204
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000517995
  gene symbol: HACE1
  hgvsc: ENST00000517995.1:n.725+20C>T
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000429520
  ensembl transcript: ENST00000518503
  gene symbol: HACE1
  hgvsc: ENST00000518503.1:c.658+20C>T
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000358121
  ensembl transcript: ENST00000369125
  gene symbol: HACE1
  hgvsc: ENST00000369125.2:c.1566+12913C>T
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000430898
  ensembl transcript: ENST00000517424
  gene symbol: HACE1
  hgvsc: ENST00000517424.1:c.*476+20C>T
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000428110
  ensembl transcript: ENST00000518402
  gene symbol: HACE1
  hgvsc: ENST00000518402.1:c.514+20C>T
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000392425
  ensembl transcript: ENST00000416605
  gene symbol: HACE1
  hgvsc: ENST00000416605.2:c.*1873+20C>T
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000262903
  ensembl transcript: ENST00000262903
  gene symbol: HACE1
  hgvsc: ENST00000262903.4:c.2211+20C>T
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000369127
  gene symbol: HACE1
  hgvsc: ENST00000369127.4:n.3232+20C>T
  variant of: http://identifiers.org/hgnc/21033
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8267
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28504
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2043
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17770
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7378
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3896
  bin: 9.75e1
  variant carriers: 3
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD

6-105219062-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105219062
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 105219062
    reference: chr 6
allele count: 1
allele frequency: 8.245246615326264e-6
allele num: 121282
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000429520
  ensembl transcript: ENST00000518503
  gene symbol: HACE1
  hgvsc: ENST00000518503.1:c.658+6T>C
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000392425
  ensembl transcript: ENST00000416605
  gene symbol: HACE1
  hgvsc: ENST00000416605.2:c.*1873+6T>C
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000428110
  ensembl transcript: ENST00000518402
  gene symbol: HACE1
  hgvsc: ENST00000518402.1:c.514+6T>C
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000358121
  ensembl transcript: ENST00000369125
  gene symbol: HACE1
  hgvsc: ENST00000369125.2:c.1566+12899T>C
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000369127
  gene symbol: HACE1
  hgvsc: ENST00000369127.4:n.3232+6T>C
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000517995
  gene symbol: HACE1
  hgvsc: ENST00000517995.1:n.725+6T>C
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000430898
  ensembl transcript: ENST00000517424
  gene symbol: HACE1
  hgvsc: ENST00000517424.1:c.*476+6T>C
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000262903
  ensembl transcript: ENST00000262903
  gene symbol: HACE1
  hgvsc: ENST00000262903.4:c.2211+6T>C
  variant of: http://identifiers.org/hgnc/21033
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8275
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17849
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2047
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28609
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1836
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
hgvs: c.2211+6T>C
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: African
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

6-105219106-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105219106
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 105219106
    reference: chr 6
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000430898
  ensembl transcript: ENST00000517424
  gene symbol: HACE1
  hgvsc: ENST00000517424.1:c.*438C>T
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000262903
  ensembl transcript: ENST00000262903
  gene symbol: HACE1
  hgvsc: ENST00000262903.4:c.2173C>T
  hgvsp: ENSP00000262903.4:p.Pro725Ser
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000517995
  gene symbol: HACE1
  hgvsc: ENST00000517995.1:n.687C>T
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000428110
  ensembl transcript: ENST00000518402
  gene symbol: HACE1
  hgvsc: ENST00000518402.1:c.476C>T
  hgvsp: ENSP00000428110.1:p.Pro160Ser
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000429520
  ensembl transcript: ENST00000518503
  gene symbol: HACE1
  hgvsc: ENST00000518503.1:c.620C>T
  hgvsp: ENSP00000429520.1:p.Pro208Ser
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000358121
  ensembl transcript: ENST00000369125
  gene symbol: HACE1
  hgvsc: ENST00000369125.2:c.1566+12855C>T
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000392425
  ensembl transcript: ENST00000416605
  gene symbol: HACE1
  hgvsc: ENST00000416605.2:c.*1835C>T
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000369127
  gene symbol: HACE1
  hgvsc: ENST00000369127.4:n.3194C>T
  variant of: http://identifiers.org/hgnc/21033
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17904
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28701
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2040
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8281
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1122
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1742
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro725Ser
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP

6-105219137-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105219137
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 105219137
    reference: chr 6
allele count: 3
allele frequency: 2.471658317954126e-5
allele num: 121376
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000428110
  ensembl transcript: ENST00000518402
  gene symbol: HACE1
  hgvsc: ENST00000518402.1:c.445G>A
  hgvsp: ENST00000518402.1:c.445G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000429520
  ensembl transcript: ENST00000518503
  gene symbol: HACE1
  hgvsc: ENST00000518503.1:c.589G>A
  hgvsp: ENST00000518503.1:c.589G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000369127
  gene symbol: HACE1
  hgvsc: ENST00000369127.4:n.3163G>A
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000430898
  ensembl transcript: ENST00000517424
  gene symbol: HACE1
  hgvsc: ENST00000517424.1:c.*407G>A
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000358121
  ensembl transcript: ENST00000369125
  gene symbol: HACE1
  hgvsc: ENST00000369125.2:c.1566+12824G>A
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000262903
  ensembl transcript: ENST00000262903
  gene symbol: HACE1
  hgvsc: ENST00000262903.4:c.2142G>A
  hgvsp: ENST00000262903.4:c.2142G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000392425
  ensembl transcript: ENST00000416605
  gene symbol: HACE1
  hgvsc: ENST00000416605.2:c.*1804G>A
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000517995
  gene symbol: HACE1
  hgvsc: ENST00000517995.1:n.656G>A
  variant of: http://identifiers.org/hgnc/21033
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28703
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8282
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2042
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17896
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1739
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Val714Val
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ

6-105219161-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105219161
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 105219161
    reference: chr 6
allele count: 3
allele frequency: 2.472350876036327e-5
allele num: 121342
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000392425
  ensembl transcript: ENST00000416605
  gene symbol: HACE1
  hgvsc: ENST00000416605.2:c.*1780A>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000430898
  ensembl transcript: ENST00000517424
  gene symbol: HACE1
  hgvsc: ENST00000517424.1:c.*383A>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000369127
  gene symbol: HACE1
  hgvsc: ENST00000369127.4:n.3139A>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000428110
  ensembl transcript: ENST00000518402
  gene symbol: HACE1
  hgvsc: ENST00000518402.1:c.421A>G
  hgvsp: ENST00000518402.1:c.421A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000262903
  ensembl transcript: ENST00000262903
  gene symbol: HACE1
  hgvsc: ENST00000262903.4:c.2118A>G
  hgvsp: ENST00000262903.4:c.2118A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000517995
  gene symbol: HACE1
  hgvsc: ENST00000517995.1:n.632A>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000358121
  ensembl transcript: ENST00000369125
  gene symbol: HACE1
  hgvsc: ENST00000369125.2:c.1566+12800A>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000429520
  ensembl transcript: ENST00000518503
  gene symbol: HACE1
  hgvsc: ENST00000518503.1:c.565A>G
  hgvsp: ENST00000518503.1:c.565A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21033
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8279
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28686
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2042
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17867
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1838
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu706Leu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: European (Finnish)
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

6-105219173-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105219173
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 105219173
    reference: chr 6
allele count: 1
allele frequency: 8.24347940778844e-6
allele num: 121308
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000392425
  ensembl transcript: ENST00000416605
  gene symbol: HACE1
  hgvsc: ENST00000416605.2:c.*1768G>C
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000369127
  gene symbol: HACE1
  hgvsc: ENST00000369127.4:n.3127G>C
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000517995
  gene symbol: HACE1
  hgvsc: ENST00000517995.1:n.620G>C
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000429520
  ensembl transcript: ENST00000518503
  gene symbol: HACE1
  hgvsc: ENST00000518503.1:c.553G>C
  hgvsp: ENST00000518503.1:c.553G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000428110
  ensembl transcript: ENST00000518402
  gene symbol: HACE1
  hgvsc: ENST00000518402.1:c.409G>C
  hgvsp: ENST00000518402.1:c.409G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000430898
  ensembl transcript: ENST00000517424
  gene symbol: HACE1
  hgvsc: ENST00000517424.1:c.*371G>C
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000262903
  ensembl transcript: ENST00000262903
  gene symbol: HACE1
  hgvsc: ENST00000262903.4:c.2106G>C
  hgvsp: ENST00000262903.4:c.2106G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000358121
  ensembl transcript: ENST00000369125
  gene symbol: HACE1
  hgvsc: ENST00000369125.2:c.1566+12788G>C
  variant of: http://identifiers.org/hgnc/21033
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17809
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2041
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8276
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28686
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7403
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu702Leu
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

6-105219179-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105219179
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 105219179
    reference: chr 6
allele count: 28
allele frequency: 2.308973661207593e-4
allele num: 121266
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000428110
  ensembl transcript: ENST00000518402
  gene symbol: HACE1
  hgvsc: ENST00000518402.1:c.403T>C
  hgvsp: ENST00000518402.1:c.403T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000429520
  ensembl transcript: ENST00000518503
  gene symbol: HACE1
  hgvsc: ENST00000518503.1:c.547T>C
  hgvsp: ENST00000518503.1:c.547T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000517995
  gene symbol: HACE1
  hgvsc: ENST00000517995.1:n.614T>C
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000369127
  gene symbol: HACE1
  hgvsc: ENST00000369127.4:n.3121T>C
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000358121
  ensembl transcript: ENST00000369125
  gene symbol: HACE1
  hgvsc: ENST00000369125.2:c.1566+12782T>C
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000430898
  ensembl transcript: ENST00000517424
  gene symbol: HACE1
  hgvsc: ENST00000517424.1:c.*365T>C
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000262903
  ensembl transcript: ENST00000262903
  gene symbol: HACE1
  hgvsc: ENST00000262903.4:c.2100T>C
  hgvsp: ENST00000262903.4:c.2100T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000392425
  ensembl transcript: ENST00000416605
  gene symbol: HACE1
  hgvsc: ENST00000416605.2:c.*1762T>C
  variant of: http://identifiers.org/hgnc/21033
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28690
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8273
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17748
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2041
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3909
  bin: 9.75e1
  variant carriers: 28
genotype quality: GenotypeQuality
  all individuals: 1722
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1114
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser700Ser
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ

6-105219186-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105219186
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 105219186
    reference: chr 6
allele count: 1
allele frequency: 8.250280509537325e-6
allele num: 121208
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000428110
  ensembl transcript: ENST00000518402
  gene symbol: HACE1
  hgvsc: ENST00000518402.1:c.396A>T
  hgvsp: ENSP00000428110.1:p.Asp133Val
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000517995
  gene symbol: HACE1
  hgvsc: ENST00000517995.1:n.607A>T
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000262903
  ensembl transcript: ENST00000262903
  gene symbol: HACE1
  hgvsc: ENST00000262903.4:c.2093A>T
  hgvsp: ENSP00000262903.4:p.Asp698Val
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000358121
  ensembl transcript: ENST00000369125
  gene symbol: HACE1
  hgvsc: ENST00000369125.2:c.1566+12775A>T
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000369127
  gene symbol: HACE1
  hgvsc: ENST00000369127.4:n.3114A>T
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000430898
  ensembl transcript: ENST00000517424
  gene symbol: HACE1
  hgvsc: ENST00000517424.1:c.*358A>T
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000429520
  ensembl transcript: ENST00000518503
  gene symbol: HACE1
  hgvsc: ENST00000518503.1:c.540A>T
  hgvsp: ENSP00000429520.1:p.Asp181Val
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000392425
  ensembl transcript: ENST00000416605
  gene symbol: HACE1
  hgvsc: ENST00000416605.2:c.*1755A>T
  variant of: http://identifiers.org/hgnc/21033
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17678
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28697
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8282
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2032
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1833
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asp698Val
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

6-105219191-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105219191
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 105219191
    reference: chr 6
allele count: 1
allele frequency: 8.255320554097116e-6
allele num: 121134
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000429520
  ensembl transcript: ENST00000518503
  gene symbol: HACE1
  hgvsc: ENST00000518503.1:c.535T>C
  hgvsp: ENST00000518503.1:c.535T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000428110
  ensembl transcript: ENST00000518402
  gene symbol: HACE1
  hgvsc: ENST00000518402.1:c.391T>C
  hgvsp: ENST00000518402.1:c.391T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000392425
  ensembl transcript: ENST00000416605
  gene symbol: HACE1
  hgvsc: ENST00000416605.2:c.*1750T>C
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000262903
  ensembl transcript: ENST00000262903
  gene symbol: HACE1
  hgvsc: ENST00000262903.4:c.2088T>C
  hgvsp: ENST00000262903.4:c.2088T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000430898
  ensembl transcript: ENST00000517424
  gene symbol: HACE1
  hgvsc: ENST00000517424.1:c.*353T>C
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000358121
  ensembl transcript: ENST00000369125
  gene symbol: HACE1
  hgvsc: ENST00000369125.2:c.1566+12770T>C
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000517995
  gene symbol: HACE1
  hgvsc: ENST00000517995.1:n.602T>C
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000369127
  gene symbol: HACE1
  hgvsc: ENST00000369127.4:n.3109T>C
  variant of: http://identifiers.org/hgnc/21033
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8273
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28675
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2034
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17626
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3880
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 766
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asp696Asp
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD

6-105219203-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105219203
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 105219203
    reference: chr 6
allele count: 1
allele frequency: 8.273762245168123e-6
allele num: 120864
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000428110
  ensembl transcript: ENST00000518402
  gene symbol: HACE1
  hgvsc: ENST00000518402.1:c.379A>T
  hgvsp: ENSP00000428110.1:p.Gln127His
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000430898
  ensembl transcript: ENST00000517424
  gene symbol: HACE1
  hgvsc: ENST00000517424.1:c.*341A>T
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000517995
  gene symbol: HACE1
  hgvsc: ENST00000517995.1:n.590A>T
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000358121
  ensembl transcript: ENST00000369125
  gene symbol: HACE1
  hgvsc: ENST00000369125.2:c.1566+12758A>T
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000429520
  ensembl transcript: ENST00000518503
  gene symbol: HACE1
  hgvsc: ENST00000518503.1:c.523A>T
  hgvsp: ENSP00000429520.1:p.Gln175His
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000262903
  ensembl transcript: ENST00000262903
  gene symbol: HACE1
  hgvsc: ENST00000262903.4:c.2076A>T
  hgvsp: ENSP00000262903.4:p.Gln692His
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000392425
  ensembl transcript: ENST00000416605
  gene symbol: HACE1
  hgvsc: ENST00000416605.2:c.*1738A>T
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000369127
  gene symbol: HACE1
  hgvsc: ENST00000369127.4:n.3097A>T
  variant of: http://identifiers.org/hgnc/21033
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8235
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28610
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17397
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2027
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3881
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1803
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gln692His
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD

6-105219203-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105219203
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 105219203
    reference: chr 6
allele count: 3
allele frequency: 2.482128673550437e-5
allele num: 120864
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000369127
  gene symbol: HACE1
  hgvsc: ENST00000369127.4:n.3097A>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000430898
  ensembl transcript: ENST00000517424
  gene symbol: HACE1
  hgvsc: ENST00000517424.1:c.*341A>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000392425
  ensembl transcript: ENST00000416605
  gene symbol: HACE1
  hgvsc: ENST00000416605.2:c.*1738A>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000262903
  ensembl transcript: ENST00000262903
  gene symbol: HACE1
  hgvsc: ENST00000262903.4:c.2076A>G
  hgvsp: ENST00000262903.4:c.2076A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000517995
  gene symbol: HACE1
  hgvsc: ENST00000517995.1:n.590A>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000429520
  ensembl transcript: ENST00000518503
  gene symbol: HACE1
  hgvsc: ENST00000518503.1:c.523A>G
  hgvsp: ENST00000518503.1:c.523A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000428110
  ensembl transcript: ENST00000518402
  gene symbol: HACE1
  hgvsc: ENST00000518402.1:c.379A>G
  hgvsp: ENST00000518402.1:c.379A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000358121
  ensembl transcript: ENST00000369125
  gene symbol: HACE1
  hgvsc: ENST00000369125.2:c.1566+12758A>G
  variant of: http://identifiers.org/hgnc/21033
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2027
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17397
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28610
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8235
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1101
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3881
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gln692Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
population: African
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

6-105219211-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105219211
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 105219211
    reference: chr 6
allele count: 1
allele frequency: 8.292011476143882e-6
allele num: 120598
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000517995
  gene symbol: HACE1
  hgvsc: ENST00000517995.1:n.582A>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000430898
  ensembl transcript: ENST00000517424
  gene symbol: HACE1
  hgvsc: ENST00000517424.1:c.*333A>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000428110
  ensembl transcript: ENST00000518402
  gene symbol: HACE1
  hgvsc: ENST00000518402.1:c.371A>G
  hgvsp: ENSP00000428110.1:p.Asn125Asp
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000392425
  ensembl transcript: ENST00000416605
  gene symbol: HACE1
  hgvsc: ENST00000416605.2:c.*1730A>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000429520
  ensembl transcript: ENST00000518503
  gene symbol: HACE1
  hgvsc: ENST00000518503.1:c.515A>G
  hgvsp: ENSP00000429520.1:p.Asn173Asp
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000262903
  ensembl transcript: ENST00000262903
  gene symbol: HACE1
  hgvsc: ENST00000262903.4:c.2068A>G
  hgvsp: ENSP00000262903.4:p.Asn690Asp
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000369127
  gene symbol: HACE1
  hgvsc: ENST00000369127.4:n.3089A>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000358121
  ensembl transcript: ENST00000369125
  gene symbol: HACE1
  hgvsc: ENST00000369125.2:c.1566+12750A>G
  variant of: http://identifiers.org/hgnc/21033
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17242
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8194
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2019
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28481
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 715
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3878
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7222
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42177
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asn690Asp
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: European (Finnish)
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum

6-105219215-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105219215
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 105219215
    reference: chr 6
allele count: 2
allele frequency: 1.659833684664797e-5
allele num: 120494
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000517995
  gene symbol: HACE1
  hgvsc: ENST00000517995.1:n.578G>A
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000369127
  gene symbol: HACE1
  hgvsc: ENST00000369127.4:n.3085G>A
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000429520
  ensembl transcript: ENST00000518503
  gene symbol: HACE1
  hgvsc: ENST00000518503.1:c.511G>A
  hgvsp: ENST00000518503.1:c.511G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000430898
  ensembl transcript: ENST00000517424
  gene symbol: HACE1
  hgvsc: ENST00000517424.1:c.*329G>A
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000358121
  ensembl transcript: ENST00000369125
  gene symbol: HACE1
  hgvsc: ENST00000369125.2:c.1566+12746G>A
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000392425
  ensembl transcript: ENST00000416605
  gene symbol: HACE1
  hgvsc: ENST00000416605.2:c.*1726G>A
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000262903
  ensembl transcript: ENST00000262903
  gene symbol: HACE1
  hgvsc: ENST00000262903.4:c.2064G>A
  hgvsp: ENST00000262903.4:c.2064G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000428110
  ensembl transcript: ENST00000518402
  gene symbol: HACE1
  hgvsc: ENST00000518402.1:c.367G>A
  hgvsp: ENST00000518402.1:c.367G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21033
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8180
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28391
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17235
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2024
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1762
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7179
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala688Ala
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

6-105219231-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105219231
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 105219231
    reference: chr 6
allele count: 3
allele frequency: 2.513489057944301e-5
allele num: 119356
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000392425
  ensembl transcript: ENST00000416605
  gene symbol: HACE1
  hgvsc: ENST00000416605.2:c.*1710T>C
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000517995
  gene symbol: HACE1
  hgvsc: ENST00000517995.1:n.562T>C
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000429520
  ensembl transcript: ENST00000518503
  gene symbol: HACE1
  hgvsc: ENST00000518503.1:c.495T>C
  hgvsp: ENSP00000429520.1:p.Ile166Thr
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000430898
  ensembl transcript: ENST00000517424
  gene symbol: HACE1
  hgvsc: ENST00000517424.1:c.*313T>C
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000358121
  ensembl transcript: ENST00000369125
  gene symbol: HACE1
  hgvsc: ENST00000369125.2:c.1566+12730T>C
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000369127
  gene symbol: HACE1
  hgvsc: ENST00000369127.4:n.3069T>C
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000262903
  ensembl transcript: ENST00000262903
  gene symbol: HACE1
  hgvsc: ENST00000262903.4:c.2048T>C
  hgvsp: ENSP00000262903.4:p.Ile683Thr
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000428110
  ensembl transcript: ENST00000518402
  gene symbol: HACE1
  hgvsc: ENST00000518402.1:c.351T>C
  hgvsp: ENSP00000428110.1:p.Ile118Thr
  variant of: http://identifiers.org/hgnc/21033
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27749
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17015
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7915
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1982
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1576
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6859
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ile683Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: FS

6-105219233-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105219233
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 105219233
    reference: chr 6
allele count: 1
allele frequency: 8.396587626788473e-6
allele num: 119096
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000369127
  gene symbol: HACE1
  hgvsc: ENST00000369127.4:n.3067C>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000262903
  ensembl transcript: ENST00000262903
  gene symbol: HACE1
  hgvsc: ENST00000262903.4:c.2046C>G
  hgvsp: ENST00000262903.4:c.2046C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000429520
  ensembl transcript: ENST00000518503
  gene symbol: HACE1
  hgvsc: ENST00000518503.1:c.493C>G
  hgvsp: ENST00000518503.1:c.493C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000358121
  ensembl transcript: ENST00000369125
  gene symbol: HACE1
  hgvsc: ENST00000369125.2:c.1566+12728C>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000517995
  gene symbol: HACE1
  hgvsc: ENST00000517995.1:n.560C>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000428110
  ensembl transcript: ENST00000518402
  gene symbol: HACE1
  hgvsc: ENST00000518402.1:c.349C>G
  hgvsp: ENST00000518402.1:c.349C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000392425
  ensembl transcript: ENST00000416605
  gene symbol: HACE1
  hgvsc: ENST00000416605.2:c.*1708C>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000430898
  ensembl transcript: ENST00000517424
  gene symbol: HACE1
  hgvsc: ENST00000517424.1:c.*311C>G
  variant of: http://identifiers.org/hgnc/21033
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7898
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27625
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1982
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16854
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6818
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1994
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser682Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

6-105219236-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105219236
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 105219236
    reference: chr 6
allele count: 1
allele frequency: 8.456945689494782e-6
allele num: 118246
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000430898
  ensembl transcript: ENST00000517424
  gene symbol: HACE1
  hgvsc: ENST00000517424.1:c.*308A>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000428110
  ensembl transcript: ENST00000518402
  gene symbol: HACE1
  hgvsc: ENST00000518402.1:c.346A>G
  hgvsp: ENST00000518402.1:c.346A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000369127
  gene symbol: HACE1
  hgvsc: ENST00000369127.4:n.3064A>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000392425
  ensembl transcript: ENST00000416605
  gene symbol: HACE1
  hgvsc: ENST00000416605.2:c.*1705A>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000358121
  ensembl transcript: ENST00000369125
  gene symbol: HACE1
  hgvsc: ENST00000369125.2:c.1566+12725A>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000429520
  ensembl transcript: ENST00000518503
  gene symbol: HACE1
  hgvsc: ENST00000518503.1:c.490A>G
  hgvsp: ENST00000518503.1:c.490A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000262903
  ensembl transcript: ENST00000262903
  gene symbol: HACE1
  hgvsc: ENST00000262903.4:c.2043A>G
  hgvsp: ENST00000262903.4:c.2043A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000517995
  gene symbol: HACE1
  hgvsc: ENST00000517995.1:n.557A>G
  variant of: http://identifiers.org/hgnc/21033
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1973
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27185
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1247
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16332
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7795
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2858
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1526
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1632
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala681Ala
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

6-105219238-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105219238
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 105219238
    reference: chr 6
allele count: 1
allele frequency: 8.461668641056017e-6
allele num: 118180
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000517995
  gene symbol: HACE1
  hgvsc: ENST00000517995.1:n.555G>A
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000392425
  ensembl transcript: ENST00000416605
  gene symbol: HACE1
  hgvsc: ENST00000416605.2:c.*1703G>A
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000429520
  ensembl transcript: ENST00000518503
  gene symbol: HACE1
  hgvsc: ENST00000518503.1:c.488G>A
  hgvsp: ENSP00000429520.1:p.Ala164Thr
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000358121
  ensembl transcript: ENST00000369125
  gene symbol: HACE1
  hgvsc: ENST00000369125.2:c.1566+12723G>A
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000428110
  ensembl transcript: ENST00000518402
  gene symbol: HACE1
  hgvsc: ENST00000518402.1:c.344G>A
  hgvsp: ENSP00000428110.1:p.Ala116Thr
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000369127
  gene symbol: HACE1
  hgvsc: ENST00000369127.4:n.3062G>A
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000262903
  ensembl transcript: ENST00000262903
  gene symbol: HACE1
  hgvsc: ENST00000262903.4:c.2041G>A
  hgvsp: ENSP00000262903.4:p.Ala681Thr
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000430898
  ensembl transcript: ENST00000517424
  gene symbol: HACE1
  hgvsc: ENST00000517424.1:c.*306G>A
  variant of: http://identifiers.org/hgnc/21033
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7767
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27151
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1981
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16393
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1243
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2879
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40420
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1025
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala681Thr
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

http://identifiers.org/exac.variant/6-105219269-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105219269
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 105219269
    reference: chr 6
allele count: 1
allele frequency: 9.455191845842552e-6
allele num: 105762
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000358121
  ensembl transcript: ENST00000369125
  gene symbol: HACE1
  hgvsc: ENST00000369125.2:c.1566+12692T>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000262903
  ensembl transcript: ENST00000262903
  gene symbol: HACE1
  hgvsc: ENST00000262903.4:c.2015-5T>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000428110
  ensembl transcript: ENST00000518402
  gene symbol: HACE1
  hgvsc: ENST00000518402.1:c.318-5T>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000517995
  gene symbol: HACE1
  hgvsc: ENST00000517995.1:n.529-5T>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000392425
  ensembl transcript: ENST00000416605
  gene symbol: HACE1
  hgvsc: ENST00000416605.2:c.*1677-5T>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000429520
  ensembl transcript: ENST00000518503
  gene symbol: HACE1
  hgvsc: ENST00000518503.1:c.462-5T>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000430898
  ensembl transcript: ENST00000517424
  gene symbol: HACE1
  hgvsc: ENST00000517424.1:c.*280-5T>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000369127
  gene symbol: HACE1
  hgvsc: ENST00000369127.4:n.3036-5T>G
  variant of: http://identifiers.org/hgnc/21033
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5343
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7527
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11769
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1801
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1772
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10665
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17949
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3898
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 4.75e1
  variant carriers: 0
hgvs: c.2015-5T>G
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP

6-105219273-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105219273
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 105219273
    reference: chr 6
allele count: 1
allele frequency: 9.666318679194216e-6
allele num: 103452
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000369127
  gene symbol: HACE1
  hgvsc: ENST00000369127.4:n.3036-9A>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000428110
  ensembl transcript: ENST00000518402
  gene symbol: HACE1
  hgvsc: ENST00000518402.1:c.318-9A>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000392425
  ensembl transcript: ENST00000416605
  gene symbol: HACE1
  hgvsc: ENST00000416605.2:c.*1677-9A>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000358121
  ensembl transcript: ENST00000369125
  gene symbol: HACE1
  hgvsc: ENST00000369125.2:c.1566+12688A>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000429520
  ensembl transcript: ENST00000518503
  gene symbol: HACE1
  hgvsc: ENST00000518503.1:c.462-9A>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000430898
  ensembl transcript: ENST00000517424
  gene symbol: HACE1
  hgvsc: ENST00000517424.1:c.*280-9A>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000517995
  gene symbol: HACE1
  hgvsc: ENST00000517995.1:n.529-9A>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000262903
  ensembl transcript: ENST00000262903
  gene symbol: HACE1
  hgvsc: ENST00000262903.4:c.2015-9A>G
  variant of: http://identifiers.org/hgnc/21033
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14415
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1758
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9155
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15680
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8522
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2180
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4985
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1002
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1060
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2653
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

6-105219283-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105219283
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 105219283
    reference: chr 6
allele count: 1
allele frequency: 1.0277914816642e-5
allele num: 97296
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000429520
  ensembl transcript: ENST00000518503
  gene symbol: HACE1
  hgvsc: ENST00000518503.1:c.462-19G>A
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000262903
  ensembl transcript: ENST00000262903
  gene symbol: HACE1
  hgvsc: ENST00000262903.4:c.2015-19G>A
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000392425
  ensembl transcript: ENST00000416605
  gene symbol: HACE1
  hgvsc: ENST00000416605.2:c.*1677-19G>A
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000517995
  gene symbol: HACE1
  hgvsc: ENST00000517995.1:n.529-19G>A
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000430898
  ensembl transcript: ENST00000517424
  gene symbol: HACE1
  hgvsc: ENST00000517424.1:c.*280-19G>A
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000428110
  ensembl transcript: ENST00000518402
  gene symbol: HACE1
  hgvsc: ENST00000518402.1:c.318-19G>A
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000358121
  ensembl transcript: ENST00000369125
  gene symbol: HACE1
  hgvsc: ENST00000369125.2:c.1566+12678G>A
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000369127
  gene symbol: HACE1
  hgvsc: ENST00000369127.4:n.3036-19G>A
  variant of: http://identifiers.org/hgnc/21033
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21247
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3454
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9513
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10694
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3706
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5731
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23822
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13556
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 712
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/6-105219284-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105219284
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 105219284
    reference: chr 6
allele count: 1
allele frequency: 1.035432500155315e-5
allele num: 96578
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000369127
  gene symbol: HACE1
  hgvsc: ENST00000369127.4:n.3036-20T>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000430898
  ensembl transcript: ENST00000517424
  gene symbol: HACE1
  hgvsc: ENST00000517424.1:c.*280-20T>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000517995
  gene symbol: HACE1
  hgvsc: ENST00000517995.1:n.529-20T>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000392425
  ensembl transcript: ENST00000416605
  gene symbol: HACE1
  hgvsc: ENST00000416605.2:c.*1677-20T>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000428110
  ensembl transcript: ENST00000518402
  gene symbol: HACE1
  hgvsc: ENST00000518402.1:c.318-20T>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000358121
  ensembl transcript: ENST00000369125
  gene symbol: HACE1
  hgvsc: ENST00000369125.2:c.1566+12677T>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000262903
  ensembl transcript: ENST00000262903
  gene symbol: HACE1
  hgvsc: ENST00000262903.4:c.2015-20T>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000429520
  ensembl transcript: ENST00000518503
  gene symbol: HACE1
  hgvsc: ENST00000518503.1:c.462-20T>G
  variant of: http://identifiers.org/hgnc/21033
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22252
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3845
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10972
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3454
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8430
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5244
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4630
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3845
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 24262
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1303
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4612
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
reference allele: A
site quality: MQ
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

6-105219297-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105219297
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 105219297
    reference: chr 6
allele count: 1
allele frequency: 1.132733739607168e-5
allele num: 88282
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000392425
  ensembl transcript: ENST00000416605
  gene symbol: HACE1
  hgvsc: ENST00000416605.2:c.*1677-33A>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000262903
  ensembl transcript: ENST00000262903
  gene symbol: HACE1
  hgvsc: ENST00000262903.4:c.2015-33A>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000358121
  ensembl transcript: ENST00000369125
  gene symbol: HACE1
  hgvsc: ENST00000369125.2:c.1566+12664A>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000430898
  ensembl transcript: ENST00000517424
  gene symbol: HACE1
  hgvsc: ENST00000517424.1:c.*280-33A>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000369127
  gene symbol: HACE1
  hgvsc: ENST00000369127.4:n.3036-33A>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000428110
  ensembl transcript: ENST00000518402
  gene symbol: HACE1
  hgvsc: ENST00000518402.1:c.318-33A>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000429520
  ensembl transcript: ENST00000518503
  gene symbol: HACE1
  hgvsc: ENST00000518503.1:c.462-33A>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000517995
  gene symbol: HACE1
  hgvsc: ENST00000517995.1:n.529-33A>G
  variant of: http://identifiers.org/hgnc/21033
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2465
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6561
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13360
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2727
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4046
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3044
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23195
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 892
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 701
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6443
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22912
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3843
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3387
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3299
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1512
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

6-105219307-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105219307
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 105219307
    reference: chr 6
allele count: 0
allele frequency: 0.0e0
allele num: 79292
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000428110
  ensembl transcript: ENST00000518402
  gene symbol: HACE1
  hgvsc: ENST00000518402.1:c.318-43A>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000262903
  ensembl transcript: ENST00000262903
  gene symbol: HACE1
  hgvsc: ENST00000262903.4:c.2015-43A>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000517995
  gene symbol: HACE1
  hgvsc: ENST00000517995.1:n.529-43A>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000369127
  gene symbol: HACE1
  hgvsc: ENST00000369127.4:n.3036-43A>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000429520
  ensembl transcript: ENST00000518503
  gene symbol: HACE1
  hgvsc: ENST00000518503.1:c.462-43A>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000392425
  ensembl transcript: ENST00000416605
  gene symbol: HACE1
  hgvsc: ENST00000416605.2:c.*1677-43A>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000430898
  ensembl transcript: ENST00000517424
  gene symbol: HACE1
  hgvsc: ENST00000517424.1:c.*280-43A>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000358121
  ensembl transcript: ENST00000369125
  gene symbol: HACE1
  hgvsc: ENST00000369125.2:c.1566+12654A>G
  variant of: http://identifiers.org/hgnc/21033
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3293
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1573
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19815
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17051
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2811
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7764
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2545
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2101
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2913
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1223
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4070
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 843
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum

6-105219316-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105219316
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 105219316
    reference: chr 6
allele count: 0
allele frequency: 0.0e0
allele num: 73292
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000429520
  ensembl transcript: ENST00000518503
  gene symbol: HACE1
  hgvsc: ENST00000518503.1:c.462-52G>C
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000262903
  ensembl transcript: ENST00000262903
  gene symbol: HACE1
  hgvsc: ENST00000262903.4:c.2015-52G>C
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000428110
  ensembl transcript: ENST00000518402
  gene symbol: HACE1
  hgvsc: ENST00000518402.1:c.318-52G>C
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000358121
  ensembl transcript: ENST00000369125
  gene symbol: HACE1
  hgvsc: ENST00000369125.2:c.1566+12645G>C
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000517995
  gene symbol: HACE1
  hgvsc: ENST00000517995.1:n.529-52G>C
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000392425
  ensembl transcript: ENST00000416605
  gene symbol: HACE1
  hgvsc: ENST00000416605.2:c.*1677-52G>C
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000430898
  ensembl transcript: ENST00000517424
  gene symbol: HACE1
  hgvsc: ENST00000517424.1:c.*280-52G>C
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000369127
  gene symbol: HACE1
  hgvsc: ENST00000369127.4:n.3036-52G>C
  variant of: http://identifiers.org/hgnc/21033
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18237
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3237
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2282
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1934
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3398
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18913
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7366
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 822
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5030
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3832
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1050
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 817
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP

6-105219754-A-AAAACAATATAAATAAATGTCTGCAG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105219754
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 105219779
    reference: chr 6
allele count: 98
allele frequency: 8.504729671092598e-4
allele num: 115230
alternate allele: AAAACAATATAAATAAATGTCTGCAG
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000262903
  ensembl transcript: ENST00000262903
  gene symbol: HACE1
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000392425
  ensembl transcript: ENST00000416605
  gene symbol: HACE1
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000358121
  ensembl transcript: ENST00000369125
  gene symbol: HACE1
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000517995
  gene symbol: HACE1
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000369127
  gene symbol: HACE1
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000429520
  ensembl transcript: ENST00000518503
  gene symbol: HACE1
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000428110
  ensembl transcript: ENST00000518402
  gene symbol: HACE1
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000430898
  ensembl transcript: ENST00000517424
  gene symbol: HACE1
  variant of: http://identifiers.org/hgnc/21033
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2321
  bin: 4.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5465
  bin: 1.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 13887
  bin: 2.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 2663
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 12090
  bin: 2.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5094
  bin: 1.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9747
  bin: 3.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4302
  bin: 3.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 2565
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2362
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2407
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1403
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2154
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1393
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6127
  bin: 9.75e1
  variant carriers: 99
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: VQSLOD

http://identifiers.org/exac.variant/6-105219756-AAC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105219756
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 105219754
    reference: chr 6
allele count: 4
allele frequency: 3.470474934494785e-5
allele num: 115258
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000428110
  ensembl transcript: ENST00000518402
  gene symbol: HACE1
  hgvsc: ENST00000518402.1:c.317+42_317+43delGT
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000430898
  ensembl transcript: ENST00000517424
  gene symbol: HACE1
  hgvsc: ENST00000517424.1:c.*279+42_*279+43delGT
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000429520
  ensembl transcript: ENST00000518503
  gene symbol: HACE1
  hgvsc: ENST00000518503.1:c.461+42_461+43delGT
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000358121
  ensembl transcript: ENST00000369125
  gene symbol: HACE1
  hgvsc: ENST00000369125.2:c.1566+12203_1566+12204delGT
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000517995
  gene symbol: HACE1
  hgvsc: ENST00000517995.1:n.528+42_528+43delGT
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000262903
  ensembl transcript: ENST00000262903
  gene symbol: HACE1
  hgvsc: ENST00000262903.4:c.2014+42_2014+43delGT
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000369127
  gene symbol: HACE1
  hgvsc: ENST00000369127.4:n.3035+42_3035+43delGT
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000392425
  ensembl transcript: ENST00000416605
  gene symbol: HACE1
  hgvsc: ENST00000416605.2:c.*1676+42_*1676+43delGT
  variant of: http://identifiers.org/hgnc/21033
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4313
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4135
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5328
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14012
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9823
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12979
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2663
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2324
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1372
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2362
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1210
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2369
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2161
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2416
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: AAC
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/6-105219757-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105219757
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 105219756
    reference: chr 6
allele count: 418
allele frequency: 3.624445061043285e-3
allele num: 115328
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000428110
  ensembl transcript: ENST00000518402
  gene symbol: HACE1
  hgvsc: ENST00000518402.1:c.317+42delG
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000358121
  ensembl transcript: ENST00000369125
  gene symbol: HACE1
  hgvsc: ENST00000369125.2:c.1566+12203delG
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000369127
  gene symbol: HACE1
  hgvsc: ENST00000369127.4:n.3035+42delG
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000430898
  ensembl transcript: ENST00000517424
  gene symbol: HACE1
  hgvsc: ENST00000517424.1:c.*279+42delG
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000517995
  gene symbol: HACE1
  hgvsc: ENST00000517995.1:n.528+42delG
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000262903
  ensembl transcript: ENST00000262903
  gene symbol: HACE1
  hgvsc: ENST00000262903.4:c.2014+42delG
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000429520
  ensembl transcript: ENST00000518503
  gene symbol: HACE1
  hgvsc: ENST00000518503.1:c.461+42delG
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000392425
  ensembl transcript: ENST00000416605
  gene symbol: HACE1
  hgvsc: ENST00000416605.2:c.*1676+42delG
  variant of: http://identifiers.org/hgnc/21033
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 4.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 2328
  bin: 4.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2662
  bin: 7.5e0
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 5229
  bin: 1.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 5.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 5.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 9898
  bin: 3.25e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 13418
  bin: 2.25e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 4331
  bin: 3.75e1
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 14075
  bin: 2.75e1
  variant carriers: 65
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 3623
  bin: 1.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2138
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1282
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2284
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2331
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2622
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 1
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: AC
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/6-105219757-A-AC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105219757
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 105219758
    reference: chr 6
allele count: 1
allele frequency: 8.670921198668147e-6
allele num: 115328
alternate allele: AC
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000262903
  ensembl transcript: ENST00000262903
  gene symbol: HACE1
  hgvsc: ENST00000262903.4:c.2014+42dupG
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000358121
  ensembl transcript: ENST00000369125
  gene symbol: HACE1
  hgvsc: ENST00000369125.2:c.1566+12203dupG
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000429520
  ensembl transcript: ENST00000518503
  gene symbol: HACE1
  hgvsc: ENST00000518503.1:c.461+42dupG
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000428110
  ensembl transcript: ENST00000518402
  gene symbol: HACE1
  hgvsc: ENST00000518402.1:c.317+42dupG
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000369127
  gene symbol: HACE1
  hgvsc: ENST00000369127.4:n.3035+42dupG
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000430898
  ensembl transcript: ENST00000517424
  gene symbol: HACE1
  hgvsc: ENST00000517424.1:c.*279+42dupG
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000517995
  gene symbol: HACE1
  hgvsc: ENST00000517995.1:n.528+42dupG
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000392425
  ensembl transcript: ENST00000416605
  gene symbol: HACE1
  hgvsc: ENST00000416605.2:c.*1676+42dupG
  variant of: http://identifiers.org/hgnc/21033
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9898
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14075
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5229
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2662
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4331
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13418
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3623
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2328
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2331
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7417
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2318
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1282
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

http://identifiers.org/exac.variant/6-105219757-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105219757
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 105219757
    reference: chr 6
allele count: 1
allele frequency: 8.670921198668147e-6
allele num: 115328
alternate allele: C
canonical: false
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4331
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2662
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13418
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14075
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3623
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5229
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2328
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9898
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1282
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1146
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2331
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2318
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2284
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6470
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1337
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1802
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2622
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1529
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7417
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25670
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 909
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2138
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 15952
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 62958
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 1
  allele frequency: 8.761170492377782e-5
  allele num: 11414
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 890
  num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/6-105219758-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105219758
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 105219758
    reference: chr 6
allele count: 3
allele frequency: 2.631117347833713e-5
allele num: 114020
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000369127
  gene symbol: HACE1
  hgvsc: ENST00000369127.4:n.3035+42G>T
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000429520
  ensembl transcript: ENST00000518503
  gene symbol: HACE1
  hgvsc: ENST00000518503.1:c.461+42G>T
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000358121
  ensembl transcript: ENST00000369125
  gene symbol: HACE1
  hgvsc: ENST00000369125.2:c.1566+12203G>T
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000262903
  ensembl transcript: ENST00000262903
  gene symbol: HACE1
  hgvsc: ENST00000262903.4:c.2014+42G>T
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000430898
  ensembl transcript: ENST00000517424
  gene symbol: HACE1
  hgvsc: ENST00000517424.1:c.*279+42G>T
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000428110
  ensembl transcript: ENST00000518402
  gene symbol: HACE1
  hgvsc: ENST00000518402.1:c.317+42G>T
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000517995
  gene symbol: HACE1
  hgvsc: ENST00000517995.1:n.528+42G>T
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000392425
  ensembl transcript: ENST00000416605
  gene symbol: HACE1
  hgvsc: ENST00000416605.2:c.*1676+42G>T
  variant of: http://identifiers.org/hgnc/21033
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14147
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10003
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3236
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13575
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5036
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2629
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4313
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2321
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2276
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2578
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1166
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1759
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1252
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

6-105219761-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105219761
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 105219761
    reference: chr 6
allele count: 1
allele frequency: 8.659658116697553e-6
allele num: 115478
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000428110
  ensembl transcript: ENST00000518402
  gene symbol: HACE1
  hgvsc: ENST00000518402.1:c.317+39A>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000358121
  ensembl transcript: ENST00000369125
  gene symbol: HACE1
  hgvsc: ENST00000369125.2:c.1566+12200A>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000262903
  ensembl transcript: ENST00000262903
  gene symbol: HACE1
  hgvsc: ENST00000262903.4:c.2014+39A>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000517995
  gene symbol: HACE1
  hgvsc: ENST00000517995.1:n.528+39A>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000430898
  ensembl transcript: ENST00000517424
  gene symbol: HACE1
  hgvsc: ENST00000517424.1:c.*279+39A>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000369127
  gene symbol: HACE1
  hgvsc: ENST00000369127.4:n.3035+39A>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000392425
  ensembl transcript: ENST00000416605
  gene symbol: HACE1
  hgvsc: ENST00000416605.2:c.*1676+39A>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000429520
  ensembl transcript: ENST00000518503
  gene symbol: HACE1
  hgvsc: ENST00000518503.1:c.461+39A>G
  variant of: http://identifiers.org/hgnc/21033
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4727
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14521
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14543
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2440
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2617
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2322
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4367
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10165
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 871
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1231
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2627
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 976
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum

http://identifiers.org/exac.variant/6-105219764-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105219764
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 105219764
    reference: chr 6
allele count: 2
allele frequency: 1.72488141440276e-5
allele num: 115950
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000369127
  gene symbol: HACE1
  hgvsc: ENST00000369127.4:n.3035+36T>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000429520
  ensembl transcript: ENST00000518503
  gene symbol: HACE1
  hgvsc: ENST00000518503.1:c.461+36T>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000430898
  ensembl transcript: ENST00000517424
  gene symbol: HACE1
  hgvsc: ENST00000517424.1:c.*279+36T>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000262903
  ensembl transcript: ENST00000262903
  gene symbol: HACE1
  hgvsc: ENST00000262903.4:c.2014+36T>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000428110
  ensembl transcript: ENST00000518402
  gene symbol: HACE1
  hgvsc: ENST00000518402.1:c.317+36T>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000517995
  gene symbol: HACE1
  hgvsc: ENST00000517995.1:n.528+36T>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000358121
  ensembl transcript: ENST00000369125
  gene symbol: HACE1
  hgvsc: ENST00000369125.2:c.1566+12197T>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000392425
  ensembl transcript: ENST00000416605
  gene symbol: HACE1
  hgvsc: ENST00000416605.2:c.*1676+36T>G
  variant of: http://identifiers.org/hgnc/21033
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4106
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2328
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10289
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14815
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2548
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4371
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15701
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29350
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2577
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1875
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2182
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

6-105219773-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105219773
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 105219773
    reference: chr 6
allele count: 17452
allele frequency: 1.47713037884687e-1
allele num: 118148
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000430898
  ensembl transcript: ENST00000517424
  gene symbol: HACE1
  hgvsc: ENST00000517424.1:c.*279+27A>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000369127
  gene symbol: HACE1
  hgvsc: ENST00000369127.4:n.3035+27A>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000392425
  ensembl transcript: ENST00000416605
  gene symbol: HACE1
  hgvsc: ENST00000416605.2:c.*1676+27A>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000428110
  ensembl transcript: ENST00000518402
  gene symbol: HACE1
  hgvsc: ENST00000518402.1:c.317+27A>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000262903
  ensembl transcript: ENST00000262903
  gene symbol: HACE1
  hgvsc: ENST00000262903.4:c.2014+27A>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000429520
  ensembl transcript: ENST00000518503
  gene symbol: HACE1
  hgvsc: ENST00000518503.1:c.461+27A>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000517995
  gene symbol: HACE1
  hgvsc: ENST00000517995.1:n.528+27A>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000358121
  ensembl transcript: ENST00000369125
  gene symbol: HACE1
  hgvsc: ENST00000369125.2:c.1566+12188A>G
  variant of: http://identifiers.org/hgnc/21033
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 8.25e1
  variant carriers: 327
genotype depth: GenotypeDepth
  all individuals: 13495
  bin: 2.75e1
  variant carriers: 1142
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 6.75e1
  variant carriers: 660
genotype depth: GenotypeDepth
  all individuals: 3251
  bin: 4.25e1
  variant carriers: 1770
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 6.25e1
  variant carriers: 862
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 7.5e0
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 1.75e1
  variant carriers: 598
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 5.75e1
  variant carriers: 1241
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 9.75e1
  variant carriers: 994
genotype depth: GenotypeDepth
  all individuals: 2059
  bin: 5.25e1
  variant carriers: 1520
genotype depth: GenotypeDepth
  all individuals: 15173
  bin: 2.25e1
  variant carriers: 821
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 1.25e1
  variant carriers: 202
genotype depth: GenotypeDepth
  all individuals: 9382
  bin: 3.25e1
  variant carriers: 1324
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 9.25e1
  variant carriers: 245
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 8.75e1
  variant carriers: 274
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 7.75e1
  variant carriers: 370
genotype depth: GenotypeDepth
  all individuals: 2590
  bin: 4.75e1
  variant carriers: 1696
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 7.25e1
  variant carriers: 485
genotype depth: GenotypeDepth
  all individuals: 4514
  bin: 3.75e1
  variant carriers: 1560
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 4.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 18154
  bin: 9.75e1
  variant carriers: 15683
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 3.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 1286
  bin: 7.25e1
  variant carriers: 38
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 5.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 2.75e1
  variant carriers: 5
num of homozygotes: 1374
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

6-105219778-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105219778
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 105219778
    reference: chr 6
allele count: 1
allele frequency: 8.394050297149381e-6
allele num: 119132
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000517995
  gene symbol: HACE1
  hgvsc: ENST00000517995.1:n.528+22T>C
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000358121
  ensembl transcript: ENST00000369125
  gene symbol: HACE1
  hgvsc: ENST00000369125.2:c.1566+12183T>C
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000428110
  ensembl transcript: ENST00000518402
  gene symbol: HACE1
  hgvsc: ENST00000518402.1:c.317+22T>C
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000369127
  gene symbol: HACE1
  hgvsc: ENST00000369127.4:n.3035+22T>C
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000262903
  ensembl transcript: ENST00000262903
  gene symbol: HACE1
  hgvsc: ENST00000262903.4:c.2014+22T>C
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000430898
  ensembl transcript: ENST00000517424
  gene symbol: HACE1
  hgvsc: ENST00000517424.1:c.*279+22T>C
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000429520
  ensembl transcript: ENST00000518503
  gene symbol: HACE1
  hgvsc: ENST00000518503.1:c.461+22T>C
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000392425
  ensembl transcript: ENST00000416605
  gene symbol: HACE1
  hgvsc: ENST00000416605.2:c.*1676+22T>C
  variant of: http://identifiers.org/hgnc/21033
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12831
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17075
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16527
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5472
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2600
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1155
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39522
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1627
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9329
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum

6-105219789-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105219789
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 105219789
    reference: chr 6
allele count: 6
allele frequency: 4.992511233150274e-5
allele num: 120180
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000430898
  ensembl transcript: ENST00000517424
  gene symbol: HACE1
  hgvsc: ENST00000517424.1:c.*279+11A>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000369127
  gene symbol: HACE1
  hgvsc: ENST00000369127.4:n.3035+11A>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000429520
  ensembl transcript: ENST00000518503
  gene symbol: HACE1
  hgvsc: ENST00000518503.1:c.461+11A>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000358121
  ensembl transcript: ENST00000369125
  gene symbol: HACE1
  hgvsc: ENST00000369125.2:c.1566+12172A>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000517995
  gene symbol: HACE1
  hgvsc: ENST00000517995.1:n.528+11A>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000262903
  ensembl transcript: ENST00000262903
  gene symbol: HACE1
  hgvsc: ENST00000262903.4:c.2014+11A>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000392425
  ensembl transcript: ENST00000416605
  gene symbol: HACE1
  hgvsc: ENST00000416605.2:c.*1676+11A>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000428110
  ensembl transcript: ENST00000518402
  gene symbol: HACE1
  hgvsc: ENST00000518402.1:c.317+11A>G
  variant of: http://identifiers.org/hgnc/21033
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17311
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5478
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12914
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2602
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17571
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40999
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ

6-105219789-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105219789
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 105219790
    reference: chr 6
allele count: 1
allele frequency: 8.320852055250457e-6
allele num: 120180
alternate allele: TA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000428110
  ensembl transcript: ENST00000518402
  gene symbol: HACE1
  hgvsc: ENST00000518402.1:c.317+10dupT
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000392425
  ensembl transcript: ENST00000416605
  gene symbol: HACE1
  hgvsc: ENST00000416605.2:c.*1676+10dupT
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000517995
  gene symbol: HACE1
  hgvsc: ENST00000517995.1:n.528+10dupT
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000369127
  gene symbol: HACE1
  hgvsc: ENST00000369127.4:n.3035+10dupT
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000429520
  ensembl transcript: ENST00000518503
  gene symbol: HACE1
  hgvsc: ENST00000518503.1:c.461+10dupT
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000358121
  ensembl transcript: ENST00000369125
  gene symbol: HACE1
  hgvsc: ENST00000369125.2:c.1566+12171dupT
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000430898
  ensembl transcript: ENST00000517424
  gene symbol: HACE1
  hgvsc: ENST00000517424.1:c.*279+10dupT
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000262903
  ensembl transcript: ENST00000262903
  gene symbol: HACE1
  hgvsc: ENST00000262903.4:c.2014+10dupT
  variant of: http://identifiers.org/hgnc/21033
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17571
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12914
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2602
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17311
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5478
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40999
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 832
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

http://identifiers.org/exac.variant/6-105219794-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105219794
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 105219794
    reference: chr 6
allele count: 1
allele frequency: 8.296276631047985e-6
allele num: 120536
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000430898
  ensembl transcript: ENST00000517424
  gene symbol: HACE1
  hgvsc: ENST00000517424.1:c.*279+6G>T
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000369127
  gene symbol: HACE1
  hgvsc: ENST00000369127.4:n.3035+6G>T
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000392425
  ensembl transcript: ENST00000416605
  gene symbol: HACE1
  hgvsc: ENST00000416605.2:c.*1676+6G>T
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000429520
  ensembl transcript: ENST00000518503
  gene symbol: HACE1
  hgvsc: ENST00000518503.1:c.461+6G>T
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000517995
  gene symbol: HACE1
  hgvsc: ENST00000517995.1:n.528+6G>T
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000428110
  ensembl transcript: ENST00000518402
  gene symbol: HACE1
  hgvsc: ENST00000518402.1:c.317+6G>T
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000262903
  ensembl transcript: ENST00000262903
  gene symbol: HACE1
  hgvsc: ENST00000262903.4:c.2014+6G>T
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000358121
  ensembl transcript: ENST00000369125
  gene symbol: HACE1
  hgvsc: ENST00000369125.2:c.1566+12167G>T
  variant of: http://identifiers.org/hgnc/21033
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17721
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17491
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12962
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5485
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2610
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9433
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 834
  bin: 8.25e1
  variant carriers: 0
hgvs: c.2014+6G>T
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

6-105219797-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105219797
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 105219797
    reference: chr 6
allele count: 1
allele frequency: 8.279516476237788e-6
allele num: 120780
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000369127
  gene symbol: HACE1
  hgvsc: ENST00000369127.4:n.3035+3A>T
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000429520
  ensembl transcript: ENST00000518503
  gene symbol: HACE1
  hgvsc: ENST00000518503.1:c.461+3A>T
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000430898
  ensembl transcript: ENST00000517424
  gene symbol: HACE1
  hgvsc: ENST00000517424.1:c.*279+3A>T
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000428110
  ensembl transcript: ENST00000518402
  gene symbol: HACE1
  hgvsc: ENST00000518402.1:c.317+3A>T
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000392425
  ensembl transcript: ENST00000416605
  gene symbol: HACE1
  hgvsc: ENST00000416605.2:c.*1676+3A>T
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000262903
  ensembl transcript: ENST00000262903
  gene symbol: HACE1
  hgvsc: ENST00000262903.4:c.2014+3A>T
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000358121
  ensembl transcript: ENST00000369125
  gene symbol: HACE1
  hgvsc: ENST00000369125.2:c.1566+12164A>T
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000517995
  gene symbol: HACE1
  hgvsc: ENST00000517995.1:n.528+3A>T
  variant of: http://identifiers.org/hgnc/21033
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17823
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12982
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17547
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5490
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2607
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 840
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41546
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
hgvs: c.2014+3A>T
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD

6-105219797-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105219797
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 105219797
    reference: chr 6
allele count: 5
allele frequency: 4.139758238118894e-5
allele num: 120780
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000262903
  ensembl transcript: ENST00000262903
  gene symbol: HACE1
  hgvsc: ENST00000262903.4:c.2014+3A>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000358121
  ensembl transcript: ENST00000369125
  gene symbol: HACE1
  hgvsc: ENST00000369125.2:c.1566+12164A>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000429520
  ensembl transcript: ENST00000518503
  gene symbol: HACE1
  hgvsc: ENST00000518503.1:c.461+3A>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000517995
  gene symbol: HACE1
  hgvsc: ENST00000517995.1:n.528+3A>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000428110
  ensembl transcript: ENST00000518402
  gene symbol: HACE1
  hgvsc: ENST00000518402.1:c.317+3A>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000430898
  ensembl transcript: ENST00000517424
  gene symbol: HACE1
  hgvsc: ENST00000517424.1:c.*279+3A>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000369127
  gene symbol: HACE1
  hgvsc: ENST00000369127.4:n.3035+3A>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000392425
  ensembl transcript: ENST00000416605
  gene symbol: HACE1
  hgvsc: ENST00000416605.2:c.*1676+3A>G
  variant of: http://identifiers.org/hgnc/21033
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12982
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2607
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17823
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5490
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17547
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1616
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1896
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.75e1
  variant carriers: 0
hgvs: c.2014+3A>G
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS

6-105219806-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105219806
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 105219806
    reference: chr 6
allele count: 1
allele frequency: 8.260776182530111e-6
allele num: 121054
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000429520
  ensembl transcript: ENST00000518503
  gene symbol: HACE1
  hgvsc: ENST00000518503.1:c.455A>G
  hgvsp: ENSP00000429520.1:p.Ile153Val
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000262903
  ensembl transcript: ENST00000262903
  gene symbol: HACE1
  hgvsc: ENST00000262903.4:c.2008A>G
  hgvsp: ENSP00000262903.4:p.Ile670Val
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000428110
  ensembl transcript: ENST00000518402
  gene symbol: HACE1
  hgvsc: ENST00000518402.1:c.311A>G
  hgvsp: ENSP00000428110.1:p.Ile105Val
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000517995
  gene symbol: HACE1
  hgvsc: ENST00000517995.1:n.522A>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000358121
  ensembl transcript: ENST00000369125
  gene symbol: HACE1
  hgvsc: ENST00000369125.2:c.1566+12155A>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000392425
  ensembl transcript: ENST00000416605
  gene symbol: HACE1
  hgvsc: ENST00000416605.2:c.*1670A>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000430898
  ensembl transcript: ENST00000517424
  gene symbol: HACE1
  hgvsc: ENST00000517424.1:c.*273A>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000369127
  gene symbol: HACE1
  hgvsc: ENST00000369127.4:n.3029A>G
  variant of: http://identifiers.org/hgnc/21033
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5495
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2606
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17960
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17698
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13013
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9480
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41911
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1614
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 836
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ile670Val
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD

6-105219822-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105219822
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 105219822
    reference: chr 6
allele count: 1
allele frequency: 8.246062505153789e-6
allele num: 121270
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000430898
  ensembl transcript: ENST00000517424
  gene symbol: HACE1
  hgvsc: ENST00000517424.1:c.*257A>T
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000262903
  ensembl transcript: ENST00000262903
  gene symbol: HACE1
  hgvsc: ENST00000262903.4:c.1992A>T
  hgvsp: ENST00000262903.4:c.1992A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000429520
  ensembl transcript: ENST00000518503
  gene symbol: HACE1
  hgvsc: ENST00000518503.1:c.439A>T
  hgvsp: ENST00000518503.1:c.439A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000392425
  ensembl transcript: ENST00000416605
  gene symbol: HACE1
  hgvsc: ENST00000416605.2:c.*1654A>T
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000428110
  ensembl transcript: ENST00000518402
  gene symbol: HACE1
  hgvsc: ENST00000518402.1:c.295A>T
  hgvsp: ENST00000518402.1:c.295A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000369127
  gene symbol: HACE1
  hgvsc: ENST00000369127.4:n.3013A>T
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000517995
  gene symbol: HACE1
  hgvsc: ENST00000517995.1:n.506A>T
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000358121
  ensembl transcript: ENST00000369125
  gene symbol: HACE1
  hgvsc: ENST00000369125.2:c.1566+12139A>T
  variant of: http://identifiers.org/hgnc/21033
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13062
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2603
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17842
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17952
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5500
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9502
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3582
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg664Arg
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD

6-105219824-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105219824
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 105219824
    reference: chr 6
allele count: 2
allele frequency: 1.648940555692967e-5
allele num: 121290
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000262903
  ensembl transcript: ENST00000262903
  gene symbol: HACE1
  hgvsc: ENST00000262903.4:c.1990C>T
  hgvsp: ENSP00000262903.4:p.Arg664Ter
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000428110
  ensembl transcript: ENST00000518402
  gene symbol: HACE1
  hgvsc: ENST00000518402.1:c.293C>T
  hgvsp: ENSP00000428110.1:p.Arg99Ter
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000392425
  ensembl transcript: ENST00000416605
  gene symbol: HACE1
  hgvsc: ENST00000416605.2:c.*1652C>T
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000429520
  ensembl transcript: ENST00000518503
  gene symbol: HACE1
  hgvsc: ENST00000518503.1:c.437C>T
  hgvsp: ENSP00000429520.1:p.Arg147Ter
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000369127
  gene symbol: HACE1
  hgvsc: ENST00000369127.4:n.3011C>T
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000430898
  ensembl transcript: ENST00000517424
  gene symbol: HACE1
  hgvsc: ENST00000517424.1:c.*255C>T
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000517995
  gene symbol: HACE1
  hgvsc: ENST00000517995.1:n.504C>T
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000358121
  ensembl transcript: ENST00000369125
  gene symbol: HACE1
  hgvsc: ENST00000369125.2:c.1566+12137C>T
  variant of: http://identifiers.org/hgnc/21033
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2604
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17931
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17856
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13073
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5506
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 839
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9496
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg664Ter
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/6-105219843-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105219843
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 105219843
    reference: chr 6
allele count: 1
allele frequency: 8.240626287597857e-6
allele num: 121350
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000428110
  ensembl transcript: ENST00000518402
  gene symbol: HACE1
  hgvsc: ENST00000518402.1:c.274G>T
  hgvsp: ENST00000518402.1:c.274G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000358121
  ensembl transcript: ENST00000369125
  gene symbol: HACE1
  hgvsc: ENST00000369125.2:c.1566+12118G>T
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000262903
  ensembl transcript: ENST00000262903
  gene symbol: HACE1
  hgvsc: ENST00000262903.4:c.1971G>T
  hgvsp: ENST00000262903.4:c.1971G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000517995
  gene symbol: HACE1
  hgvsc: ENST00000517995.1:n.485G>T
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000429520
  ensembl transcript: ENST00000518503
  gene symbol: HACE1
  hgvsc: ENST00000518503.1:c.418G>T
  hgvsp: ENST00000518503.1:c.418G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000392425
  ensembl transcript: ENST00000416605
  gene symbol: HACE1
  hgvsc: ENST00000416605.2:c.*1633G>T
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000369127
  gene symbol: HACE1
  hgvsc: ENST00000369127.4:n.2992G>T
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000430898
  ensembl transcript: ENST00000517424
  gene symbol: HACE1
  hgvsc: ENST00000517424.1:c.*236G>T
  variant of: http://identifiers.org/hgnc/21033
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2606
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17884
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5498
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13067
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17952
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9511
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu657Leu
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: C
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum

6-105219846-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105219846
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 105219846
    reference: chr 6
allele count: 2
allele frequency: 1.648125257519571e-5
allele num: 121350
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000517995
  gene symbol: HACE1
  hgvsc: ENST00000517995.1:n.482G>A
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000430898
  ensembl transcript: ENST00000517424
  gene symbol: HACE1
  hgvsc: ENST00000517424.1:c.*233G>A
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000392425
  ensembl transcript: ENST00000416605
  gene symbol: HACE1
  hgvsc: ENST00000416605.2:c.*1630G>A
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000428110
  ensembl transcript: ENST00000518402
  gene symbol: HACE1
  hgvsc: ENST00000518402.1:c.271G>A
  hgvsp: ENST00000518402.1:c.271G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000429520
  ensembl transcript: ENST00000518503
  gene symbol: HACE1
  hgvsc: ENST00000518503.1:c.415G>A
  hgvsp: ENST00000518503.1:c.415G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000262903
  ensembl transcript: ENST00000262903
  gene symbol: HACE1
  hgvsc: ENST00000262903.4:c.1968G>A
  hgvsp: ENST00000262903.4:c.1968G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000369127
  gene symbol: HACE1
  hgvsc: ENST00000369127.4:n.2989G>A
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000358121
  ensembl transcript: ENST00000369125
  gene symbol: HACE1
  hgvsc: ENST00000369125.2:c.1566+12115G>A
  variant of: http://identifiers.org/hgnc/21033
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5500
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13068
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17868
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17969
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2606
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3583
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 837
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gln656Gln
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD

6-105219848-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105219848
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 105219848
    reference: chr 6
allele count: 1
allele frequency: 8.240626287597857e-6
allele num: 121350
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000358121
  ensembl transcript: ENST00000369125
  gene symbol: HACE1
  hgvsc: ENST00000369125.2:c.1566+12113C>T
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000369127
  gene symbol: HACE1
  hgvsc: ENST00000369127.4:n.2987C>T
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000262903
  ensembl transcript: ENST00000262903
  gene symbol: HACE1
  hgvsc: ENST00000262903.4:c.1966C>T
  hgvsp: ENSP00000262903.4:p.Gln656Ter
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000428110
  ensembl transcript: ENST00000518402
  gene symbol: HACE1
  hgvsc: ENST00000518402.1:c.269C>T
  hgvsp: ENSP00000428110.1:p.Gln91Ter
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000517995
  gene symbol: HACE1
  hgvsc: ENST00000517995.1:n.480C>T
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000392425
  ensembl transcript: ENST00000416605
  gene symbol: HACE1
  hgvsc: ENST00000416605.2:c.*1628C>T
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000430898
  ensembl transcript: ENST00000517424
  gene symbol: HACE1
  hgvsc: ENST00000517424.1:c.*231C>T
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000429520
  ensembl transcript: ENST00000518503
  gene symbol: HACE1
  hgvsc: ENST00000518503.1:c.413C>T
  hgvsp: ENSP00000429520.1:p.Gln139Ter
  variant of: http://identifiers.org/hgnc/21033
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17860
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2606
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5498
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17978
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13068
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3581
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 837
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1909
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gln656Ter
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

6-105219855-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105219855
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 105219855
    reference: chr 6
allele count: 2
allele frequency: 1.648016612007449e-5
allele num: 121358
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000517995
  gene symbol: HACE1
  hgvsc: ENST00000517995.1:n.473C>T
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000369127
  gene symbol: HACE1
  hgvsc: ENST00000369127.4:n.2980C>T
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000392425
  ensembl transcript: ENST00000416605
  gene symbol: HACE1
  hgvsc: ENST00000416605.2:c.*1621C>T
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000358121
  ensembl transcript: ENST00000369125
  gene symbol: HACE1
  hgvsc: ENST00000369125.2:c.1566+12106C>T
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000428110
  ensembl transcript: ENST00000518402
  gene symbol: HACE1
  hgvsc: ENST00000518402.1:c.262C>T
  hgvsp: ENST00000518402.1:c.262C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000429520
  ensembl transcript: ENST00000518503
  gene symbol: HACE1
  hgvsc: ENST00000518503.1:c.406C>T
  hgvsp: ENST00000518503.1:c.406C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000262903
  ensembl transcript: ENST00000262903
  gene symbol: HACE1
  hgvsc: ENST00000262903.4:c.1959C>T
  hgvsp: ENST00000262903.4:c.1959C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000430898
  ensembl transcript: ENST00000517424
  gene symbol: HACE1
  hgvsc: ENST00000517424.1:c.*224C>T
  variant of: http://identifiers.org/hgnc/21033
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13075
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17834
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5497
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18001
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2606
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3581
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asn653Asn
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD

6-105219860-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105219860
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 105219860
    reference: chr 6
allele count: 8
allele frequency: 6.591197455797781e-5
allele num: 121374
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000428110
  ensembl transcript: ENST00000518402
  gene symbol: HACE1
  hgvsc: ENST00000518402.1:c.257T>C
  hgvsp: ENST00000518402.1:c.257T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000358121
  ensembl transcript: ENST00000369125
  gene symbol: HACE1
  hgvsc: ENST00000369125.2:c.1566+12101T>C
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000517995
  gene symbol: HACE1
  hgvsc: ENST00000517995.1:n.468T>C
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000429520
  ensembl transcript: ENST00000518503
  gene symbol: HACE1
  hgvsc: ENST00000518503.1:c.401T>C
  hgvsp: ENST00000518503.1:c.401T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000262903
  ensembl transcript: ENST00000262903
  gene symbol: HACE1
  hgvsc: ENST00000262903.4:c.1954T>C
  hgvsp: ENST00000262903.4:c.1954T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000369127
  gene symbol: HACE1
  hgvsc: ENST00000369127.4:n.2975T>C
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000430898
  ensembl transcript: ENST00000517424
  gene symbol: HACE1
  hgvsc: ENST00000517424.1:c.*219T>C
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000392425
  ensembl transcript: ENST00000416605
  gene symbol: HACE1
  hgvsc: ENST00000416605.2:c.*1616T>C
  variant of: http://identifiers.org/hgnc/21033
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17835
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13064
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2604
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18011
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5498
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9513
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu652Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: A
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ

6-105219862-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105219862
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 105219862
    reference: chr 6
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000430898
  ensembl transcript: ENST00000517424
  gene symbol: HACE1
  hgvsc: ENST00000517424.1:c.*217C>T
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000262903
  ensembl transcript: ENST00000262903
  gene symbol: HACE1
  hgvsc: ENST00000262903.4:c.1952C>T
  hgvsp: ENSP00000262903.4:p.Ala651Val
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000429520
  ensembl transcript: ENST00000518503
  gene symbol: HACE1
  hgvsc: ENST00000518503.1:c.399C>T
  hgvsp: ENSP00000429520.1:p.Ala134Val
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000358121
  ensembl transcript: ENST00000369125
  gene symbol: HACE1
  hgvsc: ENST00000369125.2:c.1566+12099C>T
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000428110
  ensembl transcript: ENST00000518402
  gene symbol: HACE1
  hgvsc: ENST00000518402.1:c.255C>T
  hgvsp: ENSP00000428110.1:p.Ala86Val
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000392425
  ensembl transcript: ENST00000416605
  gene symbol: HACE1
  hgvsc: ENST00000416605.2:c.*1614C>T
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000517995
  gene symbol: HACE1
  hgvsc: ENST00000517995.1:n.466C>T
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000369127
  gene symbol: HACE1
  hgvsc: ENST00000369127.4:n.2973C>T
  variant of: http://identifiers.org/hgnc/21033
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5501
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1442
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18012
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17811
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2606
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13087
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala651Val
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

6-105219863-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105219863
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 105219863
    reference: chr 6
allele count: 17
allele frequency: 1.400629459357029e-4
allele num: 121374
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000358121
  ensembl transcript: ENST00000369125
  gene symbol: HACE1
  hgvsc: ENST00000369125.2:c.1566+12098G>A
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000430898
  ensembl transcript: ENST00000517424
  gene symbol: HACE1
  hgvsc: ENST00000517424.1:c.*216G>A
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000517995
  gene symbol: HACE1
  hgvsc: ENST00000517995.1:n.465G>A
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000428110
  ensembl transcript: ENST00000518402
  gene symbol: HACE1
  hgvsc: ENST00000518402.1:c.254G>A
  hgvsp: ENSP00000428110.1:p.Ala86Thr
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000392425
  ensembl transcript: ENST00000416605
  gene symbol: HACE1
  hgvsc: ENST00000416605.2:c.*1613G>A
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000429520
  ensembl transcript: ENST00000518503
  gene symbol: HACE1
  hgvsc: ENST00000518503.1:c.398G>A
  hgvsp: ENSP00000429520.1:p.Ala134Thr
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000262903
  ensembl transcript: ENST00000262903
  gene symbol: HACE1
  hgvsc: ENST00000262903.4:c.1951G>A
  hgvsp: ENSP00000262903.4:p.Ala651Thr
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000369127
  gene symbol: HACE1
  hgvsc: ENST00000369127.4:n.2972G>A
  variant of: http://identifiers.org/hgnc/21033
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2604
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18018
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17817
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5502
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13071
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42178
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3591
  bin: 9.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala651Thr
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

6-105219872-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105219872
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 105219872
    reference: chr 6
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000262903
  ensembl transcript: ENST00000262903
  gene symbol: HACE1
  hgvsc: ENST00000262903.4:c.1942T>C
  hgvsp: ENST00000262903.4:c.1942T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000392425
  ensembl transcript: ENST00000416605
  gene symbol: HACE1
  hgvsc: ENST00000416605.2:c.*1604T>C
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000358121
  ensembl transcript: ENST00000369125
  gene symbol: HACE1
  hgvsc: ENST00000369125.2:c.1566+12089T>C
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000369127
  gene symbol: HACE1
  hgvsc: ENST00000369127.4:n.2963T>C
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000429520
  ensembl transcript: ENST00000518503
  gene symbol: HACE1
  hgvsc: ENST00000518503.1:c.389T>C
  hgvsp: ENST00000518503.1:c.389T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000430898
  ensembl transcript: ENST00000517424
  gene symbol: HACE1
  hgvsc: ENST00000517424.1:c.*207T>C
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000428110
  ensembl transcript: ENST00000518402
  gene symbol: HACE1
  hgvsc: ENST00000518402.1:c.245T>C
  hgvsp: ENST00000518402.1:c.245T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000517995
  gene symbol: HACE1
  hgvsc: ENST00000517995.1:n.456T>C
  variant of: http://identifiers.org/hgnc/21033
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17805
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2604
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5502
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18044
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13079
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 830
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9514
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1619
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu648Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD

6-105219876-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105219876
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 105219876
    reference: chr 6
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000429520
  ensembl transcript: ENST00000518503
  gene symbol: HACE1
  hgvsc: ENST00000518503.1:c.385G>A
  hgvsp: ENST00000518503.1:c.385G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000428110
  ensembl transcript: ENST00000518402
  gene symbol: HACE1
  hgvsc: ENST00000518402.1:c.241G>A
  hgvsp: ENST00000518402.1:c.241G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000392425
  ensembl transcript: ENST00000416605
  gene symbol: HACE1
  hgvsc: ENST00000416605.2:c.*1600G>A
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000262903
  ensembl transcript: ENST00000262903
  gene symbol: HACE1
  hgvsc: ENST00000262903.4:c.1938G>A
  hgvsp: ENST00000262903.4:c.1938G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000517995
  gene symbol: HACE1
  hgvsc: ENST00000517995.1:n.452G>A
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000358121
  ensembl transcript: ENST00000369125
  gene symbol: HACE1
  hgvsc: ENST00000369125.2:c.1566+12085G>A
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000430898
  ensembl transcript: ENST00000517424
  gene symbol: HACE1
  hgvsc: ENST00000517424.1:c.*203G>A
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000369127
  gene symbol: HACE1
  hgvsc: ENST00000369127.4:n.2959G>A
  variant of: http://identifiers.org/hgnc/21033
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5502
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18051
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17798
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13079
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2605
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1907
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1618
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9512
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3574
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gln646Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD

6-105219878-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105219878
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 105219878
    reference: chr 6
allele count: 4
allele frequency: 3.295435821387378e-5
allele num: 121380
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000369127
  gene symbol: HACE1
  hgvsc: ENST00000369127.4:n.2957C>A
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000392425
  ensembl transcript: ENST00000416605
  gene symbol: HACE1
  hgvsc: ENST00000416605.2:c.*1598C>A
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000517995
  gene symbol: HACE1
  hgvsc: ENST00000517995.1:n.450C>A
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000262903
  ensembl transcript: ENST00000262903
  gene symbol: HACE1
  hgvsc: ENST00000262903.4:c.1936C>A
  hgvsp: ENSP00000262903.4:p.Gln646Lys
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000430898
  ensembl transcript: ENST00000517424
  gene symbol: HACE1
  hgvsc: ENST00000517424.1:c.*201C>A
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000429520
  ensembl transcript: ENST00000518503
  gene symbol: HACE1
  hgvsc: ENST00000518503.1:c.383C>A
  hgvsp: ENSP00000429520.1:p.Gln129Lys
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000358121
  ensembl transcript: ENST00000369125
  gene symbol: HACE1
  hgvsc: ENST00000369125.2:c.1566+12083C>A
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000428110
  ensembl transcript: ENST00000518402
  gene symbol: HACE1
  hgvsc: ENST00000518402.1:c.239C>A
  hgvsp: ENSP00000428110.1:p.Gln81Lys
  variant of: http://identifiers.org/hgnc/21033
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2607
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5503
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18054
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17792
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13078
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 828
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gln646Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff

6-105219889-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105219889
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 105219889
    reference: chr 6
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000358121
  ensembl transcript: ENST00000369125
  gene symbol: HACE1
  hgvsc: ENST00000369125.2:c.1566+12072G>A
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000428110
  ensembl transcript: ENST00000518402
  gene symbol: HACE1
  hgvsc: ENST00000518402.1:c.228G>A
  hgvsp: ENSP00000428110.1:p.Arg77Gln
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000392425
  ensembl transcript: ENST00000416605
  gene symbol: HACE1
  hgvsc: ENST00000416605.2:c.*1587G>A
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000262903
  ensembl transcript: ENST00000262903
  gene symbol: HACE1
  hgvsc: ENST00000262903.4:c.1925G>A
  hgvsp: ENSP00000262903.4:p.Arg642Gln
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000517995
  gene symbol: HACE1
  hgvsc: ENST00000517995.1:n.439G>A
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000429520
  ensembl transcript: ENST00000518503
  gene symbol: HACE1
  hgvsc: ENST00000518503.1:c.372G>A
  hgvsp: ENSP00000429520.1:p.Arg125Gln
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000430898
  ensembl transcript: ENST00000517424
  gene symbol: HACE1
  hgvsc: ENST00000517424.1:c.*190G>A
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000369127
  gene symbol: HACE1
  hgvsc: ENST00000369127.4:n.2946G>A
  variant of: http://identifiers.org/hgnc/21033
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18062
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17779
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13083
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2605
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5502
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3574
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg642Gln
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

6-105219890-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105219890
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 105219890
    reference: chr 6
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000517995
  gene symbol: HACE1
  hgvsc: ENST00000517995.1:n.438C>T
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000392425
  ensembl transcript: ENST00000416605
  gene symbol: HACE1
  hgvsc: ENST00000416605.2:c.*1586C>T
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000428110
  ensembl transcript: ENST00000518402
  gene symbol: HACE1
  hgvsc: ENST00000518402.1:c.227C>T
  hgvsp: ENSP00000428110.1:p.Arg77Trp
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000429520
  ensembl transcript: ENST00000518503
  gene symbol: HACE1
  hgvsc: ENST00000518503.1:c.371C>T
  hgvsp: ENSP00000429520.1:p.Arg125Trp
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000262903
  ensembl transcript: ENST00000262903
  gene symbol: HACE1
  hgvsc: ENST00000262903.4:c.1924C>T
  hgvsp: ENSP00000262903.4:p.Arg642Trp
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000430898
  ensembl transcript: ENST00000517424
  gene symbol: HACE1
  hgvsc: ENST00000517424.1:c.*189C>T
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000369127
  gene symbol: HACE1
  hgvsc: ENST00000369127.4:n.2945C>T
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000358121
  ensembl transcript: ENST00000369125
  gene symbol: HACE1
  hgvsc: ENST00000369125.2:c.1566+12071C>T
  variant of: http://identifiers.org/hgnc/21033
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17773
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2605
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5504
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13089
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18059
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 823
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg642Trp
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ
site quality: VQSLOD

6-105219895-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105219895
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 105219895
    reference: chr 6
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000517995
  gene symbol: HACE1
  hgvsc: ENST00000517995.1:n.433A>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000429520
  ensembl transcript: ENST00000518503
  gene symbol: HACE1
  hgvsc: ENST00000518503.1:c.366A>G
  hgvsp: ENSP00000429520.1:p.Tyr123Cys
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000428110
  ensembl transcript: ENST00000518402
  gene symbol: HACE1
  hgvsc: ENST00000518402.1:c.222A>G
  hgvsp: ENSP00000428110.1:p.Tyr75Cys
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000262903
  ensembl transcript: ENST00000262903
  gene symbol: HACE1
  hgvsc: ENST00000262903.4:c.1919A>G
  hgvsp: ENSP00000262903.4:p.Tyr640Cys
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000369127
  gene symbol: HACE1
  hgvsc: ENST00000369127.4:n.2940A>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000392425
  ensembl transcript: ENST00000416605
  gene symbol: HACE1
  hgvsc: ENST00000416605.2:c.*1581A>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000358121
  ensembl transcript: ENST00000369125
  gene symbol: HACE1
  hgvsc: ENST00000369125.2:c.1566+12066A>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000430898
  ensembl transcript: ENST00000517424
  gene symbol: HACE1
  hgvsc: ENST00000517424.1:c.*184A>G
  variant of: http://identifiers.org/hgnc/21033
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2605
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5503
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18062
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13087
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17761
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1907
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Tyr640Cys
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum

6-105219900-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105219900
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 105219900
    reference: chr 6
allele count: 1
allele frequency: 8.239947264337508e-6
allele num: 121360
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000429520
  ensembl transcript: ENST00000518503
  gene symbol: HACE1
  hgvsc: ENST00000518503.1:c.361G>A
  hgvsp: ENST00000518503.1:c.361G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000392425
  ensembl transcript: ENST00000416605
  gene symbol: HACE1
  hgvsc: ENST00000416605.2:c.*1576G>A
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000430898
  ensembl transcript: ENST00000517424
  gene symbol: HACE1
  hgvsc: ENST00000517424.1:c.*179G>A
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000428110
  ensembl transcript: ENST00000518402
  gene symbol: HACE1
  hgvsc: ENST00000518402.1:c.217G>A
  hgvsp: ENST00000518402.1:c.217G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000262903
  ensembl transcript: ENST00000262903
  gene symbol: HACE1
  hgvsc: ENST00000262903.4:c.1914G>A
  hgvsp: ENST00000262903.4:c.1914G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000517995
  gene symbol: HACE1
  hgvsc: ENST00000517995.1:n.428G>A
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000358121
  ensembl transcript: ENST00000369125
  gene symbol: HACE1
  hgvsc: ENST00000369125.2:c.1566+12061G>A
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000369127
  gene symbol: HACE1
  hgvsc: ENST00000369127.4:n.2935G>A
  variant of: http://identifiers.org/hgnc/21033
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17743
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18066
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2606
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13089
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5503
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 826
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu638Leu
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

6-105219902-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105219902
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 105219902
    reference: chr 6
allele count: 6
allele frequency: 4.943805411818991e-5
allele num: 121364
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000517995
  gene symbol: HACE1
  hgvsc: ENST00000517995.1:n.426T>C
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000369127
  gene symbol: HACE1
  hgvsc: ENST00000369127.4:n.2933T>C
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000262903
  ensembl transcript: ENST00000262903
  gene symbol: HACE1
  hgvsc: ENST00000262903.4:c.1912T>C
  hgvsp: ENST00000262903.4:c.1912T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000430898
  ensembl transcript: ENST00000517424
  gene symbol: HACE1
  hgvsc: ENST00000517424.1:c.*177T>C
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000358121
  ensembl transcript: ENST00000369125
  gene symbol: HACE1
  hgvsc: ENST00000369125.2:c.1566+12059T>C
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000429520
  ensembl transcript: ENST00000518503
  gene symbol: HACE1
  hgvsc: ENST00000518503.1:c.359T>C
  hgvsp: ENST00000518503.1:c.359T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000428110
  ensembl transcript: ENST00000518402
  gene symbol: HACE1
  hgvsc: ENST00000518402.1:c.215T>C
  hgvsp: ENST00000518402.1:c.215T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000392425
  ensembl transcript: ENST00000416605
  gene symbol: HACE1
  hgvsc: ENST00000416605.2:c.*1574T>C
  variant of: http://identifiers.org/hgnc/21033
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2606
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13087
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5503
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18062
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17738
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 825
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1903
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9502
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu638Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD

6-105219908-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105219908
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 105219908
    reference: chr 6
allele count: 1
allele frequency: 8.241033755274261e-6
allele num: 121344
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000430898
  ensembl transcript: ENST00000517424
  gene symbol: HACE1
  hgvsc: ENST00000517424.1:c.*171G>C
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000517995
  gene symbol: HACE1
  hgvsc: ENST00000517995.1:n.420G>C
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000428110
  ensembl transcript: ENST00000518402
  gene symbol: HACE1
  hgvsc: ENST00000518402.1:c.209G>C
  hgvsp: ENSP00000428110.1:p.Asp71His
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000429520
  ensembl transcript: ENST00000518503
  gene symbol: HACE1
  hgvsc: ENST00000518503.1:c.353G>C
  hgvsp: ENSP00000429520.1:p.Asp119His
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000262903
  ensembl transcript: ENST00000262903
  gene symbol: HACE1
  hgvsc: ENST00000262903.4:c.1906G>C
  hgvsp: ENSP00000262903.4:p.Asp636His
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000392425
  ensembl transcript: ENST00000416605
  gene symbol: HACE1
  hgvsc: ENST00000416605.2:c.*1568G>C
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000369127
  gene symbol: HACE1
  hgvsc: ENST00000369127.4:n.2927G>C
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000358121
  ensembl transcript: ENST00000369125
  gene symbol: HACE1
  hgvsc: ENST00000369125.2:c.1566+12053G>C
  variant of: http://identifiers.org/hgnc/21033
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18061
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13088
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2606
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17698
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5503
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1901
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1616
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3567
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Asp636His
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

6-105219909-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105219909
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 105219909
    reference: chr 6
allele count: 4
allele frequency: 3.296413502109704e-5
allele num: 121344
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000428110
  ensembl transcript: ENST00000518402
  gene symbol: HACE1
  hgvsc: ENST00000518402.1:c.208T>C
  hgvsp: ENST00000518402.1:c.208T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000392425
  ensembl transcript: ENST00000416605
  gene symbol: HACE1
  hgvsc: ENST00000416605.2:c.*1567T>C
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000358121
  ensembl transcript: ENST00000369125
  gene symbol: HACE1
  hgvsc: ENST00000369125.2:c.1566+12052T>C
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000369127
  gene symbol: HACE1
  hgvsc: ENST00000369127.4:n.2926T>C
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000429520
  ensembl transcript: ENST00000518503
  gene symbol: HACE1
  hgvsc: ENST00000518503.1:c.352T>C
  hgvsp: ENST00000518503.1:c.352T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000262903
  ensembl transcript: ENST00000262903
  gene symbol: HACE1
  hgvsc: ENST00000262903.4:c.1905T>C
  hgvsp: ENST00000262903.4:c.1905T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000517995
  gene symbol: HACE1
  hgvsc: ENST00000517995.1:n.419T>C
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000430898
  ensembl transcript: ENST00000517424
  gene symbol: HACE1
  hgvsc: ENST00000517424.1:c.*170T>C
  variant of: http://identifiers.org/hgnc/21033
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2606
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18057
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17694
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5506
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13090
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1900
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3570
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro635Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: Latino
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

6-105219918-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105219918
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 105219918
    reference: chr 6
allele count: 5
allele frequency: 4.12275928033114e-5
allele num: 121278
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000358121
  ensembl transcript: ENST00000369125
  gene symbol: HACE1
  hgvsc: ENST00000369125.2:c.1566+12043T>C
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000517995
  gene symbol: HACE1
  hgvsc: ENST00000517995.1:n.410T>C
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000428110
  ensembl transcript: ENST00000518402
  gene symbol: HACE1
  hgvsc: ENST00000518402.1:c.199T>C
  hgvsp: ENST00000518402.1:c.199T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000369127
  gene symbol: HACE1
  hgvsc: ENST00000369127.4:n.2917T>C
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000392425
  ensembl transcript: ENST00000416605
  gene symbol: HACE1
  hgvsc: ENST00000416605.2:c.*1558T>C
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000430898
  ensembl transcript: ENST00000517424
  gene symbol: HACE1
  hgvsc: ENST00000517424.1:c.*161T>C
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000262903
  ensembl transcript: ENST00000262903
  gene symbol: HACE1
  hgvsc: ENST00000262903.4:c.1896T>C
  hgvsp: ENST00000262903.4:c.1896T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000429520
  ensembl transcript: ENST00000518503
  gene symbol: HACE1
  hgvsc: ENST00000518503.1:c.343T>C
  hgvsp: ENST00000518503.1:c.343T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21033
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18032
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17523
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5506
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13078
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2605
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9491
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Tyr632Tyr
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: A
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

6-105219928-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105219928
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 105219928
    reference: chr 6
allele count: 1
allele frequency: 8.254639107178234e-6
allele num: 121144
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000430898
  ensembl transcript: ENST00000517424
  gene symbol: HACE1
  hgvsc: ENST00000517424.1:c.*151G>A
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000369127
  gene symbol: HACE1
  hgvsc: ENST00000369127.4:n.2907G>A
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000429520
  ensembl transcript: ENST00000518503
  gene symbol: HACE1
  hgvsc: ENST00000518503.1:c.333G>A
  hgvsp: ENSP00000429520.1:p.Ser112Asn
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000517995
  gene symbol: HACE1
  hgvsc: ENST00000517995.1:n.400G>A
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000262903
  ensembl transcript: ENST00000262903
  gene symbol: HACE1
  hgvsc: ENST00000262903.4:c.1886G>A
  hgvsp: ENSP00000262903.4:p.Ser629Asn
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000358121
  ensembl transcript: ENST00000369125
  gene symbol: HACE1
  hgvsc: ENST00000369125.2:c.1566+12033G>A
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000392425
  ensembl transcript: ENST00000416605
  gene symbol: HACE1
  hgvsc: ENST00000416605.2:c.*1548G>A
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000428110
  ensembl transcript: ENST00000518402
  gene symbol: HACE1
  hgvsc: ENST00000518402.1:c.189G>A
  hgvsp: ENSP00000428110.1:p.Ser64Asn
  variant of: http://identifiers.org/hgnc/21033
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16951
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2609
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5505
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13077
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17896
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1878
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 821
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser629Asn
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum

6-105219963-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105219963
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 105219963
    reference: chr 6
allele count: 2
allele frequency: 2.25504566467471e-5
allele num: 88690
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000358121
  ensembl transcript: ENST00000369125
  gene symbol: HACE1
  hgvsc: ENST00000369125.2:c.1566+11998A>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000428110
  ensembl transcript: ENST00000518402
  gene symbol: HACE1
  hgvsc: ENST00000518402.1:c.168-14A>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000392425
  ensembl transcript: ENST00000416605
  gene symbol: HACE1
  hgvsc: ENST00000416605.2:c.*1527-14A>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000262903
  ensembl transcript: ENST00000262903
  gene symbol: HACE1
  hgvsc: ENST00000262903.4:c.1865-14A>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000429520
  ensembl transcript: ENST00000518503
  gene symbol: HACE1
  hgvsc: ENST00000518503.1:c.312-14A>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000430898
  ensembl transcript: ENST00000517424
  gene symbol: HACE1
  hgvsc: ENST00000517424.1:c.*130-14A>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000369127
  gene symbol: HACE1
  hgvsc: ENST00000369127.4:n.2886-14A>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000517995
  gene symbol: HACE1
  hgvsc: ENST00000517995.1:n.379-14A>G
  variant of: http://identifiers.org/hgnc/21033
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14784
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4135
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4867
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5910
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9064
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9858
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4689
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2972
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7467
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21615
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: African
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/6-105219965-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105219965
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 105219966
    reference: chr 6
allele count: 1
allele frequency: 1.130224462578268e-5
allele num: 88478
alternate allele: CA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000428110
  ensembl transcript: ENST00000518402
  gene symbol: HACE1
  hgvsc: ENST00000518402.1:c.168-17dupT
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000517995
  gene symbol: HACE1
  hgvsc: ENST00000517995.1:n.379-17dupT
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000369127
  gene symbol: HACE1
  hgvsc: ENST00000369127.4:n.2886-17dupT
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000429520
  ensembl transcript: ENST00000518503
  gene symbol: HACE1
  hgvsc: ENST00000518503.1:c.312-17dupT
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000430898
  ensembl transcript: ENST00000517424
  gene symbol: HACE1
  hgvsc: ENST00000517424.1:c.*130-17dupT
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000358121
  ensembl transcript: ENST00000369125
  gene symbol: HACE1
  hgvsc: ENST00000369125.2:c.1566+11995dupT
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000392425
  ensembl transcript: ENST00000416605
  gene symbol: HACE1
  hgvsc: ENST00000416605.2:c.*1527-17dupT
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000262903
  ensembl transcript: ENST00000262903
  gene symbol: HACE1
  hgvsc: ENST00000262903.4:c.1865-17dupT
  variant of: http://identifiers.org/hgnc/21033
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4809
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14814
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4113
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9100
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4743
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9943
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5830
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21728
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1881
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum

6-105219969-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105219969
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 105219969
    reference: chr 6
allele count: 3
allele frequency: 3.985969387755102e-5
allele num: 75264
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000430898
  ensembl transcript: ENST00000517424
  gene symbol: HACE1
  hgvsc: ENST00000517424.1:c.*130-20T>C
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000262903
  ensembl transcript: ENST00000262903
  gene symbol: HACE1
  hgvsc: ENST00000262903.4:c.1865-20T>C
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000429520
  ensembl transcript: ENST00000518503
  gene symbol: HACE1
  hgvsc: ENST00000518503.1:c.312-20T>C
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000428110
  ensembl transcript: ENST00000518402
  gene symbol: HACE1
  hgvsc: ENST00000518402.1:c.168-20T>C
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000392425
  ensembl transcript: ENST00000416605
  gene symbol: HACE1
  hgvsc: ENST00000416605.2:c.*1527-20T>C
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000369127
  gene symbol: HACE1
  hgvsc: ENST00000369127.4:n.2886-20T>C
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000358121
  ensembl transcript: ENST00000369125
  gene symbol: HACE1
  hgvsc: ENST00000369125.2:c.1566+11992T>C
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000517995
  gene symbol: HACE1
  hgvsc: ENST00000517995.1:n.379-20T>C
  variant of: http://identifiers.org/hgnc/21033
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8527
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17575
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3775
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5649
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11364
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2461
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3370
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3271
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3541
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1589
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 697
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8184
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9942
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ

6-105219972-ATATAT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105219972
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 105219967
    reference: chr 6
allele count: 1
allele frequency: 1.381368106973146e-5
allele num: 72392
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000430898
  ensembl transcript: ENST00000517424
  gene symbol: HACE1
  hgvsc: ENST00000517424.1:c.*130-28_*130-24delATATA
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000358121
  ensembl transcript: ENST00000369125
  gene symbol: HACE1
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000517995
  gene symbol: HACE1
  hgvsc: ENST00000517995.1:n.379-28_379-24delATATA
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000369127
  gene symbol: HACE1
  hgvsc: ENST00000369127.4:n.2886-28_2886-24delATATA
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000262903
  ensembl transcript: ENST00000262903
  gene symbol: HACE1
  hgvsc: ENST00000262903.4:c.1865-28_1865-24delATATA
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000428110
  ensembl transcript: ENST00000518402
  gene symbol: HACE1
  hgvsc: ENST00000518402.1:c.168-28_168-24delATATA
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000392425
  ensembl transcript: ENST00000416605
  gene symbol: HACE1
  hgvsc: ENST00000416605.2:c.*1527-28_*1527-24delATATA
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000429520
  ensembl transcript: ENST00000518503
  gene symbol: HACE1
  hgvsc: ENST00000518503.1:c.312-28_312-24delATATA
  variant of: http://identifiers.org/hgnc/21033
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9531
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18042
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11550
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3625
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4880
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2116
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2738
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10308
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3558
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 896
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6947
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21240
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: ATATAT
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

6-105219975-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105219975
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 105219975
    reference: chr 6
allele count: 1
allele frequency: 1.435502856650685e-5
allele num: 69662
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000429520
  ensembl transcript: ENST00000518503
  gene symbol: HACE1
  hgvsc: ENST00000518503.1:c.312-26A>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000392425
  ensembl transcript: ENST00000416605
  gene symbol: HACE1
  hgvsc: ENST00000416605.2:c.*1527-26A>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000517995
  gene symbol: HACE1
  hgvsc: ENST00000517995.1:n.379-26A>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000369127
  gene symbol: HACE1
  hgvsc: ENST00000369127.4:n.2886-26A>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000358121
  ensembl transcript: ENST00000369125
  gene symbol: HACE1
  hgvsc: ENST00000369125.2:c.1566+11986A>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000262903
  ensembl transcript: ENST00000262903
  gene symbol: HACE1
  hgvsc: ENST00000262903.4:c.1865-26A>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000430898
  ensembl transcript: ENST00000517424
  gene symbol: HACE1
  hgvsc: ENST00000517424.1:c.*130-26A>G
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000428110
  ensembl transcript: ENST00000518402
  gene symbol: HACE1
  hgvsc: ENST00000518402.1:c.168-26A>G
  variant of: http://identifiers.org/hgnc/21033
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3637
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4134
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2319
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10400
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18139
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11752
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1268
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 779
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3644
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

6-105219975-T-TTTTTGTA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105219975
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 105219982
    reference: chr 6
allele count: 2
allele frequency: 2.871005713301369e-5
allele num: 69662
alternate allele: TTTTTGTA
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000392425
  ensembl transcript: ENST00000416605
  gene symbol: HACE1
  hgvsc: ENST00000416605.2:c.*1527-27_*1527-26insTACAAAA
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000429520
  ensembl transcript: ENST00000518503
  gene symbol: HACE1
  hgvsc: ENST00000518503.1:c.312-27_312-26insTACAAAA
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000428110
  ensembl transcript: ENST00000518402
  gene symbol: HACE1
  hgvsc: ENST00000518402.1:c.168-27_168-26insTACAAAA
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000358121
  ensembl transcript: ENST00000369125
  gene symbol: HACE1
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000517995
  gene symbol: HACE1
  hgvsc: ENST00000517995.1:n.379-27_379-26insTACAAAA
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000262903
  ensembl transcript: ENST00000262903
  gene symbol: HACE1
  hgvsc: ENST00000262903.4:c.1865-27_1865-26insTACAAAA
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl transcript: ENST00000369127
  gene symbol: HACE1
  hgvsc: ENST00000369127.4:n.2886-27_2886-26insTACAAAA
  variant of: http://identifiers.org/hgnc/21033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085382
  ensembl protein: ENSP00000430898
  ensembl transcript: ENST00000517424
  gene symbol: HACE1
  hgvsc: ENST00000517424.1:c.*130-27_*130-26insTACAAAA
  variant of: http://identifiers.org/hgnc/21033
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11752
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4134
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10400
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18139
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2319
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3637
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1163
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3644
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20575
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1264
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 1728
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 49
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1123
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 523
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 771
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3894
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 7358
bin: 6.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.06060606060606e-5
allele num: 16500
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10338
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502268425322237e-5
allele num: 66566
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.704646e6

MQRankSum
type: SiteQuality
SIO_000300: 1.7e-1

QD
type: SiteQuality
SIO_000300: 1.728e1

FS
type: SiteQuality
SIO_000300: 3.016e0

VQSLOD
type: SiteQuality
SIO_000300: -3.363e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.54e0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
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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: 3.25e1
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42624
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 520
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501817198810561e-5
allele num: 66586
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10338
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 5.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.26e-1

DP
type: SiteQuality
SIO_000300: 1.70636e6

MQRankSum
type: SiteQuality
SIO_000300: 2.5e-2

QD
type: SiteQuality
SIO_000300: 1.277e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.118e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.604e0

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 523
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variant carriers: 0

GenotypeQuality
all individuals: 1834
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501456412720339e-5
allele num: 66602
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10348
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.969e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.97e-1

DP
type: SiteQuality
SIO_000300: 1.708106e6

VQSLOD
type: SiteQuality
SIO_000300: 6.13e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.49e0

QD
type: SiteQuality
SIO_000300: 1.285e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.8e0

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

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 42851
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10348
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500870504892838e-5
allele num: 66628
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.245e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

DP
type: SiteQuality
SIO_000300: 1.709266e6

QD
type: SiteQuality
SIO_000300: 1.275e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.41e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.16e0

VQSLOD
type: SiteQuality
SIO_000300: -6.346000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.868e0

MQ
type: SiteQuality
SIO_000300: 5.892e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.99e-1

GenotypeQuality
all individuals: 1831
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1728
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 52
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variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 3
allele frequency: 2.595155709342561e-4
allele num: 11560
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66634
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10350
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.91e-1

QD
type: SiteQuality
SIO_000300: 1.276e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.106e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

MQ
type: SiteQuality
SIO_000300: 5.963e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.850000000000001e-1

FS
type: SiteQuality
SIO_000300: 3.982e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.62e-1

DP
type: SiteQuality
SIO_000300: 1.709775e6

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

GenotypeQuality
all individuals: 1
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variant carriers: 0

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

GenotypeQuality
all individuals: 64
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 21
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GenotypeQuality
all individuals: 768
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66666
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.63948332369385e-5
allele num: 10374
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.35e0

VQSLOD
type: SiteQuality
SIO_000300: 1.1e0

MQRankSum
type: SiteQuality
SIO_000300: 1.33e0

DP
type: SiteQuality
SIO_000300: 1.71218e6

FS
type: SiteQuality
SIO_000300: 7.91e-1

MQ
type: SiteQuality
SIO_000300: 5.979e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

QD
type: SiteQuality
SIO_000300: 1.574e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

GenotypeQuality
all individuals: 520
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

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

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

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -5.35e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.91e-1

MQ
type: SiteQuality
SIO_000300: 5.984e1

VQSLOD
type: SiteQuality
SIO_000300: 5.88e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.71e-1

QD
type: SiteQuality
SIO_000300: 1.346e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.61e0

DP
type: SiteQuality
SIO_000300: 1.714243e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 3

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211387038158692e-4
allele num: 16510
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: 8654
num of homozygotes: 0

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -7.59e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.714284e6

FS
type: SiteQuality
SIO_000300: 1.134e0

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.319e0

VQSLOD
type: SiteQuality
SIO_000300: 3.31e-1

QD
type: SiteQuality
SIO_000300: 1.018e1

MQ
type: SiteQuality
SIO_000300: 5.947e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66708
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.21e-1

MQ
type: SiteQuality
SIO_000300: 5.958e1

DP
type: SiteQuality
SIO_000300: 1.71395e6

FS
type: SiteQuality
SIO_000300: 5.7e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.23e-1

QD
type: SiteQuality
SIO_000300: 9.6e0

VQSLOD
type: SiteQuality
SIO_000300: 1.42e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.97e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 14
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variant carriers: 0

GenotypeQuality
all individuals: 1117
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11560
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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499430216517723e-5
allele num: 66692
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.94e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.96e-1

DP
type: SiteQuality
SIO_000300: 1.713484e6

FS
type: SiteQuality
SIO_000300: 7.62e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.849e0

QD
type: SiteQuality
SIO_000300: 1.362e1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.656509695290859e-5
allele num: 11552
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 27
allele frequency: 4.049919001619968e-4
allele num: 66668
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.77e-1

MQRankSum
type: SiteQuality
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VQSLOD
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FS
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.62e-1

DP
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InbreedingCoeff
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BaseQRankSum
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QD
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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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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10376
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500870504892838e-5
allele num: 66628
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.59e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.033e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.932e0

DP
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SIO_000300: 1.711577e6

QD
type: SiteQuality
SIO_000300: 1.081e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.3e-2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 10370
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.502087902184036e-5
allele num: 66574
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.96e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 6.15e0

VQSLOD
type: SiteQuality
SIO_000300: -2.421e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.96e-1

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.097e0

DP
type: SiteQuality
SIO_000300: 1.710537e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.82e-1

QD
type: SiteQuality
SIO_000300: 1.351e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 906
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10350
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16478
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506069459923492e-5
allele num: 66398
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.962e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.33e0

MQRankSum
type: SiteQuality
SIO_000300: 1.05e0

FS
type: SiteQuality
SIO_000300: 2.007e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.66e-1

DP
type: SiteQuality
SIO_000300: 1.706005e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.81e-1

QD
type: SiteQuality
SIO_000300: 1.461e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 66398
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 3
allele frequency: 1.820609297244811e-4
allele num: 16478
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10350
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.66e-1

QD
type: SiteQuality
SIO_000300: 1.461e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.96e-1

FS
type: SiteQuality
SIO_000300: 2.007e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.706005e6

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.962e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.33e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11492
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16432
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50993537476596e-5
allele num: 66228
num of homozygotes: 0

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

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

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

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

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.022791850553171e-5
allele num: 66164
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 3
allele frequency: 4.587857470561248e-5
allele num: 65390
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

African
type: Population
allele count: 0
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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

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

European (Non-Finnish)
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allele frequency: 1.533507130808158e-5
allele num: 65210
num of homozygotes: 0

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

QD
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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VQSLOD
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FS
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MQ
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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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allele frequency: 0.0e0
allele num: 11310
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.546312045770837e-5
allele num: 64670
num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 1.750148762644825e-5
allele num: 57138
num of homozygotes: 0

Other
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num of homozygotes: 0

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

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

Latino
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.793335963559413e-5
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num of homozygotes: 0

MQ
type: SiteQuality
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InbreedingCoeff
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FS
type: SiteQuality
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DP
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VQSLOD
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ReadPosRankSum
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MQRankSum
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QD
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ClippingRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (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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European (Non-Finnish)
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allele num: 52154
num of homozygotes: 0

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

East Asian
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Latino
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allele num: 8770
num of homozygotes: 0

MQ
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DP
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FS
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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QD
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Latino
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East Asian
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African
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Other
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European (Finnish)
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European (Non-Finnish)
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ReadPosRankSum
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MQ
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InbreedingCoeff
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VQSLOD
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QD
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MQRankSum
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FS
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DP
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ClippingRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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South Asian
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European (Finnish)
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East Asian
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African
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European (Non-Finnish)
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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QD
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InbreedingCoeff
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MQ
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MQRankSum
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FS
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DP
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
allele num: 7140
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 37754
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4802
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12390
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6062
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 636
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.705e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.28e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.54e0

QD
type: SiteQuality
SIO_000300: 5.47e0

MQRankSum
type: SiteQuality
SIO_000300: 9.88e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.537e0

DP
type: SiteQuality
SIO_000300: 9.37022e5

GenotypeQuality
all individuals: 221
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 907
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
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: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2523
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7417
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7998
num of homozygotes: 0

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

Latino
type: Population
allele count: 6
allele frequency: 5.259467040673212e-4
allele num: 11408
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.123595505617978e-3
allele num: 890
num of homozygotes: 0

South Asian
type: Population
allele count: 16
allele frequency: 1.005151400929765e-3
allele num: 15918
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6526
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 75
allele frequency: 1.191989828353465e-3
allele num: 62920
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.287e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.7e-2

QD
type: SiteQuality
SIO_000300: 1.94e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.95e0

MQ
type: SiteQuality
SIO_000300: 5.052e1

DP
type: SiteQuality
SIO_000300: 1.672309e6

FS
type: SiteQuality
SIO_000300: 7.796e0

VQSLOD
type: SiteQuality
SIO_000300: -9.5e-1

GenotypeQuality
all individuals: 7457
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 25056
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 859
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6530
num of homozygotes: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 1.882530120481928e-4
allele num: 15936
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9566
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.589673481066989e-5
allele num: 62906
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8022
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.52e0

DP
type: SiteQuality
SIO_000300: 1.680973e6

MQRankSum
type: SiteQuality
SIO_000300: -2.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.2e-1

MQ
type: SiteQuality
SIO_000300: 6.01e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.55e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.08e-1

QD
type: SiteQuality
SIO_000300: 8.9e-1

GenotypeQuality
all individuals: 1146
bin: 4.25e1
variant carriers: 2

GenotypeQuality
all individuals: 1337
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 25670
bin: 6.25e1
variant carriers: 1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2318
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 412

GenotypeQuality
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bin: 8.75e1
variant carriers: 5

GenotypeQuality
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variant carriers: 2

GenotypeQuality
all individuals: 1529
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1802
bin: 8.25e1
variant carriers: 4

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.592774035517453e-4
allele num: 6532
num of homozygotes: 0

Latino
type: Population
allele count: 17
allele frequency: 1.489398983704223e-3
allele num: 11414
num of homozygotes: 0

African
type: Population
allele count: 13
allele frequency: 1.356993736951983e-3
allele num: 9580
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 269
allele frequency: 4.272689729661044e-3
allele num: 62958
num of homozygotes: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8002
num of homozygotes: 0

South Asian
type: Population
allele count: 112
allele frequency: 7.021063189568706e-3
allele num: 15952
num of homozygotes: 0

Other
type: Population
allele count: 4
allele frequency: 4.494382022471911e-3
allele num: 890
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.074e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.07e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.44e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.46e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.65e-1

DP
type: SiteQuality
SIO_000300: 1.687436e6

QD
type: SiteQuality
SIO_000300: 1.189e1

FS
type: SiteQuality
SIO_000300: 1.022e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

GenotypeQuality
all individuals: 2622
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25670
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2284
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 650
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variant carriers: 0

GenotypeQuality
all individuals: 1802
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variant carriers: 0

GenotypeQuality
all individuals: 2138
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variant carriers: 0

GenotypeQuality
all individuals: 909
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6470
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variant carriers: 1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1146
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1529
bin: 4.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8002
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15952
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 1.04384133611691e-4
allele num: 9580
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62958
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

FS
type: SiteQuality
SIO_000300: 1.022e0

MQRankSum
type: SiteQuality
SIO_000300: 7.65e-1

QD
type: SiteQuality
SIO_000300: 1.189e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.7e-2

DP
type: SiteQuality
SIO_000300: 1.687436e6

VQSLOD
type: SiteQuality
SIO_000300: 3.44e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.07e-1

MQ
type: SiteQuality
SIO_000300: 6.074e1

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8002
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.07e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.7e-2

MQ
type: SiteQuality
SIO_000300: 6.074e1

DP
type: SiteQuality
SIO_000300: 1.687436e6

MQRankSum
type: SiteQuality
SIO_000300: 7.65e-1

FS
type: SiteQuality
SIO_000300: 1.022e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.44e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.46e-1

QD
type: SiteQuality
SIO_000300: 1.189e1

GenotypeQuality
all individuals: 2262
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2242
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 1.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2075
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variant carriers: 0

GenotypeQuality
all individuals: 6037
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 208
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 254
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 894
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1460
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.275510204081633e-4
allele num: 15680
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11344
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.257229067136032e-4
allele num: 7954
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62176
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9470
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.79e-1

DP
type: SiteQuality
SIO_000300: 1.68027e6

VQSLOD
type: SiteQuality
SIO_000300: -2.685e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

QD
type: SiteQuality
SIO_000300: 3.8e0

MQRankSum
type: SiteQuality
SIO_000300: -6.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 6.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.29e-1

GenotypeQuality
all individuals: 6077
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2136
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7550
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 514
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1978
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27477
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1803
bin: 8.25e1
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GenotypeQuality
all individuals: 1281
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2317
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 913
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9600
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63012
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6538
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.764241893076249e-5
allele num: 11410
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8054
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15974
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -3.82e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

QD
type: SiteQuality
SIO_000300: 3.277e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.08e-1

DP
type: SiteQuality
SIO_000300: 1.702442e6

VQSLOD
type: SiteQuality
SIO_000300: -3.53e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.54e0

GenotypeQuality
all individuals: 1135
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2359
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1289
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variant carriers: 0

GenotypeQuality
all individuals: 1830
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GenotypeQuality
all individuals: 1575
bin: 3.75e1
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GenotypeQuality
all individuals: 917
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 1.25e1
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GenotypeQuality
all individuals: 7740
bin: 6.75e1
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GenotypeQuality
all individuals: 6098
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 547
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variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63302
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.2482836100362e-4
allele num: 16022
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6540
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.85e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.042e0

VQSLOD
type: SiteQuality
SIO_000300: 3.19e-1

QD
type: SiteQuality
SIO_000300: 1.317e1

MQRankSum
type: SiteQuality
SIO_000300: 6.05e-1

DP
type: SiteQuality
SIO_000300: 1.717537e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.01e0

GenotypeQuality
all individuals: 56
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 6228
bin: 6.75e1
variant carriers: 48

GenotypeQuality
all individuals: 37
bin: 1.75e1
variant carriers: 5

GenotypeQuality
all individuals: 28788
bin: 6.25e1
variant carriers: 47

GenotypeQuality
all individuals: 470
bin: 9.25e1
variant carriers: 51

GenotypeQuality
all individuals: 334
bin: 3.75e1
variant carriers: 12

GenotypeQuality
all individuals: 1493
bin: 2.25e1
variant carriers: 6

GenotypeQuality
all individuals: 140
bin: 4.25e1
variant carriers: 21

GenotypeQuality
all individuals: 169
bin: 5.25e1
variant carriers: 21

GenotypeQuality
all individuals: 1051
bin: 7.75e1
variant carriers: 41

GenotypeQuality
all individuals: 325
bin: 8.75e1
variant carriers: 39

GenotypeQuality
all individuals: 638
bin: 8.25e1
variant carriers: 54

European (Finnish)
type: Population
allele count: 754
allele frequency: 1.15149664019548e-1
allele num: 6548
num of homozygotes: 46

East Asian
type: Population
allele count: 32
allele frequency: 3.830500359109409e-3
allele num: 8354
num of homozygotes: 0

Other
type: Population
allele count: 110
allele frequency: 1.224944320712695e-1
allele num: 898
num of homozygotes: 9

Latino
type: Population
allele count: 1934
allele frequency: 1.685549938992505e-1
allele num: 11474
num of homozygotes: 173

South Asian
type: Population
allele count: 2638
allele frequency: 1.627993088126388e-1
allele num: 16204
num of homozygotes: 242

European (Non-Finnish)
type: Population
allele count: 10435
allele frequency: 1.614725179499876e-1
allele num: 64624
num of homozygotes: 798

African
type: Population
allele count: 1549
allele frequency: 1.541907226756918e-1
allele num: 10046
num of homozygotes: 106

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.73e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.19e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.43e-2

DP
type: SiteQuality
SIO_000300: 2.060304e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.15e-1

QD
type: SiteQuality
SIO_000300: 1.696e1

MQ
type: SiteQuality
SIO_000300: 5.977e1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.9e-2

GenotypeQuality
all individuals: 217
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 394
bin: 8.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 236
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.533130960046607e-5
allele num: 65226
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16286
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11514
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10154
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 6.06e1

MQRankSum
type: SiteQuality
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ClippingRankSum
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FS
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DP
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.81e-1

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
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SIO_000300: -2.294e0

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

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

Latino
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allele frequency: 3.465003465003465e-4
allele num: 11544
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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10298
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.518787400139728e-5
allele num: 65842
num of homozygotes: 0

East Asian
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allele frequency: 1.165229550221394e-4
allele num: 8582
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.03e-1

BaseQRankSum
type: SiteQuality
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QD
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SIO_000300: 1.431e1

MQRankSum
type: SiteQuality
SIO_000300: -1.5e-2

VQSLOD
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FS
type: SiteQuality
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DP
type: SiteQuality
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MQ
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SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
allele num: 16412
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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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: 1
allele frequency: 1.518787400139728e-5
allele num: 65842
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e-1

FS
type: SiteQuality
SIO_000300: 2.423e0

BaseQRankSum
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SIO_000300: 3.31e0

VQSLOD
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QD
type: SiteQuality
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MQ
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SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.792886e6

MQRankSum
type: SiteQuality
SIO_000300: -1.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.03e-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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66098
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.678668215253581e-5
allele num: 10332
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.51e0

MQRankSum
type: SiteQuality
SIO_000300: -6.26e-1

QD
type: SiteQuality
SIO_000300: 1.17e1

FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.797583e6

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.917e1

VQSLOD
type: SiteQuality
SIO_000300: 2.63e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.53e-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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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10364
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508978421608571e-5
allele num: 66270
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.02e-1

InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.838e0

DP
type: SiteQuality
SIO_000300: 1.799849e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.48e-1

QD
type: SiteQuality
SIO_000300: 1.232e1

BaseQRankSum
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VQSLOD
type: SiteQuality
SIO_000300: 1.62e0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 5
allele frequency: 7.544892108042855e-5
allele num: 66270
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
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Other
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allele count: 0
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MQRankSum
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ReadPosRankSum
type: SiteQuality
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DP
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BaseQRankSum
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MQ
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
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ClippingRankSum
type: SiteQuality
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FS
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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European (Non-Finnish)
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allele frequency: 1.504483360414034e-5
allele num: 66468
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European (Finnish)
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Other
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Latino
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East Asian
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African
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South Asian
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MQ
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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QD
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DP
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InbreedingCoeff
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FS
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ClippingRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele num: 16498
num of homozygotes: 0

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

African
type: Population
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allele frequency: 0.0e0
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European (Non-Finnish)
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European (Finnish)
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Latino
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BaseQRankSum
type: SiteQuality
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MQRankSum
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FS
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ReadPosRankSum
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
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InbreedingCoeff
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DP
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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East Asian
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allele count: 1
allele frequency: 1.156871818602499e-4
allele num: 8644
num of homozygotes: 0

European (Non-Finnish)
type: Population
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allele num: 66654
num of homozygotes: 0

Other
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allele num: 908
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European (Finnish)
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Latino
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allele frequency: 8.640055296353897e-5
allele num: 11574
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African
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South Asian
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MQ
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BaseQRankSum
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VQSLOD
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MQRankSum
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QD
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FS
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InbreedingCoeff
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DP
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ClippingRankSum
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ReadPosRankSum
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

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

Latino
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allele count: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66692
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
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DP
type: SiteQuality
SIO_000300: 1.808388e6

MQRankSum
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SIO_000300: 1.66e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

MQ
type: SiteQuality
SIO_000300: 5.961e1

VQSLOD
type: SiteQuality
SIO_000300: 3.81e-1

QD
type: SiteQuality
SIO_000300: 1.314e1

BaseQRankSum
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SIO_000300: -5.784e0

FS
type: SiteQuality
SIO_000300: 6.860000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.39e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
allele num: 10406
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

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
allele frequency: 2.998860433035446e-5
allele num: 66692
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.47e-1

FS
type: SiteQuality
SIO_000300: 7.248e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.971e0

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

MQRankSum
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SIO_000300: -5.02e-1

VQSLOD
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DP
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MQ
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 11574
num of homozygotes: 0

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.499385252046661e-5
allele num: 66694
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -5.262e0

FS
type: SiteQuality
SIO_000300: 6.99e-1

InbreedingCoeff
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SIO_000300: 0.0e0

QD
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.3e-1

MQRankSum
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SIO_000300: 1.26e0

MQ
type: SiteQuality
SIO_000300: 5.951e1

VQSLOD
type: SiteQuality
SIO_000300: 5.96e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.4e-2

DP
type: SiteQuality
SIO_000300: 1.808454e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
allele num: 16510
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499250374812594e-5
allele num: 66700
num of homozygotes: 0

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

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

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

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

DP
type: SiteQuality
SIO_000300: 1.808839e6

MQ
type: SiteQuality
SIO_000300: 5.933e1

MQRankSum
type: SiteQuality
SIO_000300: -5.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.44e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.27e-1

QD
type: SiteQuality
SIO_000300: 1.26e1

FS
type: SiteQuality
SIO_000300: 4.984e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.065e0

VQSLOD
type: SiteQuality
SIO_000300: 1.36e0

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66710
num of homozygotes: 0

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

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

European (Finnish)
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allele frequency: 0.0e0
allele num: 6612
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Latino
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allele frequency: 6.91085003455425e-4
allele num: 11576
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African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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FS
type: SiteQuality
SIO_000300: 0.0e0

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

BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.92e-1

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.965e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49907057624273e-5
allele num: 66708
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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African
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South Asian
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MQRankSum
type: SiteQuality
SIO_000300: 2.9e-1

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 1.38728323699422e-3
allele num: 8650
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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European (Finnish)
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African
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allele frequency: 3.843936190659235e-4
allele num: 10406
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Latino
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Other
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South Asian
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allele frequency: 6.056935190793458e-5
allele num: 16510
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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FS
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QD
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MQ
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SIO_000300: 5.957e1

VQSLOD
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ReadPosRankSum
type: SiteQuality
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DP
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GenotypeQuality
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variant carriers: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.498890820792613e-5
allele num: 66716
num of homozygotes: 0

Latino
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Other
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East Asian
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South Asian
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498935755613514e-5
allele num: 66714
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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South Asian
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African
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
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Other
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
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FS
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ClippingRankSum
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SIO_000300: 9.81e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e0

MQ
type: SiteQuality
SIO_000300: 5.946e1

DP
type: SiteQuality
SIO_000300: 1.809205e6

QD
type: SiteQuality
SIO_000300: 1.195e1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 4

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9512
bin: 6.75e1
variant carriers: 0

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

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

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

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

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

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

South Asian
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allele count: 4
allele frequency: 2.422774076317383e-4
allele num: 16510
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.79e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.04e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.330000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.65e0

VQSLOD
type: SiteQuality
SIO_000300: 7.22e-1

DP
type: SiteQuality
SIO_000300: 1.80929e6

QD
type: SiteQuality
SIO_000300: 1.182e1

MQRankSum
type: SiteQuality
SIO_000300: 7.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498935755613514e-5
allele num: 66714
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.922e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.09e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.33e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.296e1

MQ
type: SiteQuality
SIO_000300: 5.957e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -6.171e-1

DP
type: SiteQuality
SIO_000300: 1.809481e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.83e-1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1907
bin: 7.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498935755613514e-5
allele num: 66714
num of homozygotes: 0

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.38e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.115e0

DP
type: SiteQuality
SIO_000300: 1.809512e6

MQRankSum
type: SiteQuality
SIO_000300: 5.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.452e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.861e1

VQSLOD
type: SiteQuality
SIO_000300: -1.028e0

GenotypeQuality
all individuals: 600
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49902563333833e-5
allele num: 66710
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -1.712e-1

MQ
type: SiteQuality
SIO_000300: 5.932e1

FS
type: SiteQuality
SIO_000300: 8.428000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.44e0

MQRankSum
type: SiteQuality
SIO_000300: 1.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.19e-1

QD
type: SiteQuality
SIO_000300: 1.101e1

DP
type: SiteQuality
SIO_000300: 1.809294e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.7e-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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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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bin: 7.75e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66700
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.27e0

MQRankSum
type: SiteQuality
SIO_000300: -7.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 9.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 7.363e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.788e0

DP
type: SiteQuality
SIO_000300: 1.809217e6

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

African
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allele count: 6
allele frequency: 5.767012687427913e-4
allele num: 10404
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66702
num of homozygotes: 0

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

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

Other
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MQRankSum
type: SiteQuality
SIO_000300: -2.29e-1

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

GenotypeQuality
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variant carriers: 0

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

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.499520153550864e-5
allele num: 66688
num of homozygotes: 0

South Asian
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num of homozygotes: 0

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 8.94e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.54e-1

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66688
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: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

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

South Asian
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num of homozygotes: 0

Other
type: Population
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num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.456619426201175e-4
allele num: 11572
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.808299e6

InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
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BaseQRankSum
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -7.02e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66646
num of homozygotes: 0

Other
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South Asian
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African
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allele count: 5
allele frequency: 4.809542131589073e-4
allele num: 10396
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 3.553e0

VQSLOD
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.32e-1

DP
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MQ
type: SiteQuality
SIO_000300: 5.965e1

MQRankSum
type: SiteQuality
SIO_000300: 4.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.22e0

QD
type: SiteQuality
SIO_000300: 1.314e1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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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bin: 4.25e1
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1602
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9428
bin: 6.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502358703163967e-5
allele num: 66562
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16464
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.801e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.72e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 6.29e0

DP
type: SiteQuality
SIO_000300: 1.798705e6

MQRankSum
type: SiteQuality
SIO_000300: 5.05e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.724e0

MQ
type: SiteQuality
SIO_000300: 5.854e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.916e0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
all individuals: 334
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5304
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47952
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5234
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13396
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 730
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6688
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.130833155763904e-4
allele num: 9386
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.49e0

MQRankSum
type: SiteQuality
SIO_000300: -1.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.42e-2

FS
type: SiteQuality
SIO_000300: 1.911e0

DP
type: SiteQuality
SIO_000300: 1.174263e6

VQSLOD
type: SiteQuality
SIO_000300: -3.899e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.23e-1

QD
type: SiteQuality
SIO_000300: 1.857e1

GenotypeQuality
all individuals: 2935
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2610
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 615
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variant carriers: 0

GenotypeQuality
all individuals: 548
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5220
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9352
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5284
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.492982979994028e-4
allele num: 6698
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47834
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 734
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13356
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.170436e6

BaseQRankSum
type: SiteQuality
SIO_000300: -9.24e-1

QD
type: SiteQuality
SIO_000300: 4.91e0

VQSLOD
type: SiteQuality
SIO_000300: 1.75e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.33e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.034e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.863e1

MQRankSum
type: SiteQuality
SIO_000300: -4.33e-1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 4.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 466
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8278
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.379064234734338e-4
allele num: 12610
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5696
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3628
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3994
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40424
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-2

MQRankSum
type: SiteQuality
SIO_000300: -4.56e-1

FS
type: SiteQuality
SIO_000300: 8.74e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.93e0

QD
type: SiteQuality
SIO_000300: 1.535e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.8e-1

DP
type: SiteQuality
SIO_000300: 9.60614e5

VQSLOD
type: SiteQuality
SIO_000300: 4.05e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 439
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variant carriers: 0

GenotypeQuality
all individuals: 1005
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8068
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 2.711496746203905e-4
allele num: 3688
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 12466
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 600
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3324
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38710
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5536
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.54e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.514e0

MQ
type: SiteQuality
SIO_000300: 4.943e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.09e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.29e0

QD
type: SiteQuality
SIO_000300: 9.390000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.61e-1

DP
type: SiteQuality
SIO_000300: 9.12194e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.16e0

GenotypeQuality
all individuals: 1163
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 545
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5392
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 590
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3078
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.175277959450622e-5
allele num: 12232
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7850
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 37124
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3396
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.216e0

VQSLOD
type: SiteQuality
SIO_000300: 1.74e0

MQ
type: SiteQuality
SIO_000300: 5.125e1

QD
type: SiteQuality
SIO_000300: 1.126e1

MQRankSum
type: SiteQuality
SIO_000300: -2.976e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.08e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.67e0

DP
type: SiteQuality
SIO_000300: 8.74383e5

ClippingRankSum
type: SiteQuality
SIO_000300: -4.65e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.02e-1