9-32974414-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32974414
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 32974414
    reference: chr 9
allele count: 1
allele frequency: 9.020386072523904e-6
allele num: 110860
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000420071
  ensembl transcript: ENST00000479656
  gene symbol: APTX
  hgvsc: ENST00000479656.1:c.*719+42G>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000380357
  ensembl transcript: ENST00000397172
  gene symbol: APTX
  hgvsc: ENST00000397172.3:c.700+42G>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000420263
  ensembl transcript: ENST00000468275
  gene symbol: APTX
  hgvsc: ENST00000468275.1:c.874+42G>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000419723
  ensembl transcript: ENST00000483148
  gene symbol: APTX
  hgvsc: ENST00000483148.1:c.*274+42G>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000419623
  ensembl transcript: ENST00000495360
  gene symbol: APTX
  hgvsc: ENST00000495360.1:c.*604+42G>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000311547
  ensembl transcript: ENST00000309615
  gene symbol: APTX
  hgvsc: ENST00000309615.3:c.916+42G>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000417804
  ensembl transcript: ENST00000472896
  gene symbol: APTX
  hgvsc: ENST00000472896.1:c.*377+42G>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000418733
  ensembl transcript: ENST00000467331
  gene symbol: APTX
  hgvsc: ENST00000467331.1:c.*719+42G>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000418311
  ensembl transcript: ENST00000460940
  gene symbol: APTX
  hgvsc: ENST00000460940.1:c.*492+42G>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000400806
  ensembl transcript: ENST00000436040
  gene symbol: APTX
  hgvsc: ENST00000436040.2:c.*68+42G>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000369141
  ensembl transcript: ENST00000379813
  gene symbol: APTX
  hgvsc: ENST00000379813.3:c.874+42G>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000417750
  ensembl transcript: ENST00000474658
  gene symbol: APTX
  hgvsc: ENST00000474658.2:c.*317+42G>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000419846
  ensembl transcript: ENST00000463596
  gene symbol: APTX
  hgvsc: ENST00000463596.1:c.874+42G>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000419289
  ensembl transcript: ENST00000482687
  gene symbol: APTX
  hgvsc: ENST00000482687.1:c.*68+42G>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000369145
  ensembl transcript: ENST00000379817
  gene symbol: APTX
  hgvsc: ENST00000379817.2:c.874+42G>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000419042
  ensembl transcript: ENST00000476858
  gene symbol: APTX
  hgvsc: ENST00000476858.1:c.754+42G>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000419430
  ensembl transcript: ENST00000465003
  gene symbol: APTX
  hgvsc: ENST00000465003.1:c.*501+42G>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000369153
  ensembl transcript: ENST00000379825
  gene symbol: APTX
  hgvsc: ENST00000379825.2:c.916+42G>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000418144
  ensembl transcript: ENST00000485479
  gene symbol: APTX
  hgvsc: ENST00000485479.1:c.*604+42G>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000369147
  ensembl transcript: ENST00000379819
  gene symbol: APTX
  hgvsc: ENST00000379819.1:c.916+42G>C
  variant of: http://identifiers.org/hgnc/15984
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum

9-32974422-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32974422
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 32974422
    reference: chr 9
allele count: 1
allele frequency: 8.958807403558438e-6
allele num: 111622
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000419042
  ensembl transcript: ENST00000476858
  gene symbol: APTX
  hgvsc: ENST00000476858.1:c.754+34C>G
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000420263
  ensembl transcript: ENST00000468275
  gene symbol: APTX
  hgvsc: ENST00000468275.1:c.874+34C>G
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000419623
  ensembl transcript: ENST00000495360
  gene symbol: APTX
  hgvsc: ENST00000495360.1:c.*604+34C>G
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000418311
  ensembl transcript: ENST00000460940
  gene symbol: APTX
  hgvsc: ENST00000460940.1:c.*492+34C>G
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000420071
  ensembl transcript: ENST00000479656
  gene symbol: APTX
  hgvsc: ENST00000479656.1:c.*719+34C>G
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000419430
  ensembl transcript: ENST00000465003
  gene symbol: APTX
  hgvsc: ENST00000465003.1:c.*501+34C>G
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000380357
  ensembl transcript: ENST00000397172
  gene symbol: APTX
  hgvsc: ENST00000397172.3:c.700+34C>G
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000417750
  ensembl transcript: ENST00000474658
  gene symbol: APTX
  hgvsc: ENST00000474658.2:c.*317+34C>G
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000419846
  ensembl transcript: ENST00000463596
  gene symbol: APTX
  hgvsc: ENST00000463596.1:c.874+34C>G
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000369153
  ensembl transcript: ENST00000379825
  gene symbol: APTX
  hgvsc: ENST00000379825.2:c.916+34C>G
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000311547
  ensembl transcript: ENST00000309615
  gene symbol: APTX
  hgvsc: ENST00000309615.3:c.916+34C>G
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000369141
  ensembl transcript: ENST00000379813
  gene symbol: APTX
  hgvsc: ENST00000379813.3:c.874+34C>G
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000417634
  ensembl transcript: ENST00000494649
  gene symbol: APTX
  hgvsc: ENST00000494649.1:c.*719+34C>G
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000400806
  ensembl transcript: ENST00000436040
  gene symbol: APTX
  hgvsc: ENST00000436040.2:c.*68+34C>G
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000369145
  ensembl transcript: ENST00000379817
  gene symbol: APTX
  hgvsc: ENST00000379817.2:c.874+34C>G
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000418144
  ensembl transcript: ENST00000485479
  gene symbol: APTX
  hgvsc: ENST00000485479.1:c.*604+34C>G
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000419289
  ensembl transcript: ENST00000482687
  gene symbol: APTX
  hgvsc: ENST00000482687.1:c.*68+34C>G
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000417804
  ensembl transcript: ENST00000472896
  gene symbol: APTX
  hgvsc: ENST00000472896.1:c.*377+34C>G
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000418733
  ensembl transcript: ENST00000467331
  gene symbol: APTX
  hgvsc: ENST00000467331.1:c.*719+34C>G
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000419723
  ensembl transcript: ENST00000483148
  gene symbol: APTX
  hgvsc: ENST00000483148.1:c.*274+34C>G
  variant of: http://identifiers.org/hgnc/15984
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum

9-32974429-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32974429
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 32974429
    reference: chr 9
allele count: 1
allele frequency: 8.829398364795423e-6
allele num: 113258
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000417804
  ensembl transcript: ENST00000472896
  gene symbol: APTX
  hgvsc: ENST00000472896.1:c.*377+27T>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000369141
  ensembl transcript: ENST00000379813
  gene symbol: APTX
  hgvsc: ENST00000379813.3:c.874+27T>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000400806
  ensembl transcript: ENST00000436040
  gene symbol: APTX
  hgvsc: ENST00000436040.2:c.*68+27T>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000311547
  ensembl transcript: ENST00000309615
  gene symbol: APTX
  hgvsc: ENST00000309615.3:c.916+27T>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000417750
  ensembl transcript: ENST00000474658
  gene symbol: APTX
  hgvsc: ENST00000474658.2:c.*317+27T>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000419846
  ensembl transcript: ENST00000463596
  gene symbol: APTX
  hgvsc: ENST00000463596.1:c.874+27T>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000420263
  ensembl transcript: ENST00000468275
  gene symbol: APTX
  hgvsc: ENST00000468275.1:c.874+27T>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000420071
  ensembl transcript: ENST00000479656
  gene symbol: APTX
  hgvsc: ENST00000479656.1:c.*719+27T>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000419289
  ensembl transcript: ENST00000482687
  gene symbol: APTX
  hgvsc: ENST00000482687.1:c.*68+27T>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000369145
  ensembl transcript: ENST00000379817
  gene symbol: APTX
  hgvsc: ENST00000379817.2:c.874+27T>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000419430
  ensembl transcript: ENST00000465003
  gene symbol: APTX
  hgvsc: ENST00000465003.1:c.*501+27T>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000380357
  ensembl transcript: ENST00000397172
  gene symbol: APTX
  hgvsc: ENST00000397172.3:c.700+27T>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000418733
  ensembl transcript: ENST00000467331
  gene symbol: APTX
  hgvsc: ENST00000467331.1:c.*719+27T>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000418311
  ensembl transcript: ENST00000460940
  gene symbol: APTX
  hgvsc: ENST00000460940.1:c.*492+27T>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000369153
  ensembl transcript: ENST00000379825
  gene symbol: APTX
  hgvsc: ENST00000379825.2:c.916+27T>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000417634
  ensembl transcript: ENST00000494649
  gene symbol: APTX
  hgvsc: ENST00000494649.1:c.*719+27T>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000419723
  ensembl transcript: ENST00000483148
  gene symbol: APTX
  hgvsc: ENST00000483148.1:c.*274+27T>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000419623
  ensembl transcript: ENST00000495360
  gene symbol: APTX
  hgvsc: ENST00000495360.1:c.*604+27T>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000418144
  ensembl transcript: ENST00000485479
  gene symbol: APTX
  hgvsc: ENST00000485479.1:c.*604+27T>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000419042
  ensembl transcript: ENST00000476858
  gene symbol: APTX
  hgvsc: ENST00000476858.1:c.754+27T>C
  variant of: http://identifiers.org/hgnc/15984
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum

9-32974436-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32974436
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 32974436
    reference: chr 9
allele count: 1
allele frequency: 8.672425156970896e-6
allele num: 115308
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000369153
  ensembl transcript: ENST00000379825
  gene symbol: APTX
  hgvsc: ENST00000379825.2:c.916+20T>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000420071
  ensembl transcript: ENST00000479656
  gene symbol: APTX
  hgvsc: ENST00000479656.1:c.*719+20T>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000417634
  ensembl transcript: ENST00000494649
  gene symbol: APTX
  hgvsc: ENST00000494649.1:c.*719+20T>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000418311
  ensembl transcript: ENST00000460940
  gene symbol: APTX
  hgvsc: ENST00000460940.1:c.*492+20T>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000419289
  ensembl transcript: ENST00000482687
  gene symbol: APTX
  hgvsc: ENST00000482687.1:c.*68+20T>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000419846
  ensembl transcript: ENST00000463596
  gene symbol: APTX
  hgvsc: ENST00000463596.1:c.874+20T>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000311547
  ensembl transcript: ENST00000309615
  gene symbol: APTX
  hgvsc: ENST00000309615.3:c.916+20T>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000400806
  ensembl transcript: ENST00000436040
  gene symbol: APTX
  hgvsc: ENST00000436040.2:c.*68+20T>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000380357
  ensembl transcript: ENST00000397172
  gene symbol: APTX
  hgvsc: ENST00000397172.3:c.700+20T>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000418733
  ensembl transcript: ENST00000467331
  gene symbol: APTX
  hgvsc: ENST00000467331.1:c.*719+20T>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000369141
  ensembl transcript: ENST00000379813
  gene symbol: APTX
  hgvsc: ENST00000379813.3:c.874+20T>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000417750
  ensembl transcript: ENST00000474658
  gene symbol: APTX
  hgvsc: ENST00000474658.2:c.*317+20T>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000420263
  ensembl transcript: ENST00000468275
  gene symbol: APTX
  hgvsc: ENST00000468275.1:c.874+20T>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000418144
  ensembl transcript: ENST00000485479
  gene symbol: APTX
  hgvsc: ENST00000485479.1:c.*604+20T>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000419042
  ensembl transcript: ENST00000476858
  gene symbol: APTX
  hgvsc: ENST00000476858.1:c.754+20T>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000419430
  ensembl transcript: ENST00000465003
  gene symbol: APTX
  hgvsc: ENST00000465003.1:c.*501+20T>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000417804
  ensembl transcript: ENST00000472896
  gene symbol: APTX
  hgvsc: ENST00000472896.1:c.*377+20T>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000419623
  ensembl transcript: ENST00000495360
  gene symbol: APTX
  hgvsc: ENST00000495360.1:c.*604+20T>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000419723
  ensembl transcript: ENST00000483148
  gene symbol: APTX
  hgvsc: ENST00000483148.1:c.*274+20T>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000369145
  ensembl transcript: ENST00000379817
  gene symbol: APTX
  hgvsc: ENST00000379817.2:c.874+20T>C
  variant of: http://identifiers.org/hgnc/15984
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP

9-32974439-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32974439
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 32974439
    reference: chr 9
allele count: 7
allele frequency: 6.015399422521656e-5
allele num: 116368
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000369145
  ensembl transcript: ENST00000379817
  gene symbol: APTX
  hgvsc: ENST00000379817.2:c.874+17G>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000418311
  ensembl transcript: ENST00000460940
  gene symbol: APTX
  hgvsc: ENST00000460940.1:c.*492+17G>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000419846
  ensembl transcript: ENST00000463596
  gene symbol: APTX
  hgvsc: ENST00000463596.1:c.874+17G>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000419042
  ensembl transcript: ENST00000476858
  gene symbol: APTX
  hgvsc: ENST00000476858.1:c.754+17G>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000419623
  ensembl transcript: ENST00000495360
  gene symbol: APTX
  hgvsc: ENST00000495360.1:c.*604+17G>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000400806
  ensembl transcript: ENST00000436040
  gene symbol: APTX
  hgvsc: ENST00000436040.2:c.*68+17G>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000419430
  ensembl transcript: ENST00000465003
  gene symbol: APTX
  hgvsc: ENST00000465003.1:c.*501+17G>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000418144
  ensembl transcript: ENST00000485479
  gene symbol: APTX
  hgvsc: ENST00000485479.1:c.*604+17G>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000420263
  ensembl transcript: ENST00000468275
  gene symbol: APTX
  hgvsc: ENST00000468275.1:c.874+17G>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000369141
  ensembl transcript: ENST00000379813
  gene symbol: APTX
  hgvsc: ENST00000379813.3:c.874+17G>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000419723
  ensembl transcript: ENST00000483148
  gene symbol: APTX
  hgvsc: ENST00000483148.1:c.*274+17G>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000420071
  ensembl transcript: ENST00000479656
  gene symbol: APTX
  hgvsc: ENST00000479656.1:c.*719+17G>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000380357
  ensembl transcript: ENST00000397172
  gene symbol: APTX
  hgvsc: ENST00000397172.3:c.700+17G>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000369153
  ensembl transcript: ENST00000379825
  gene symbol: APTX
  hgvsc: ENST00000379825.2:c.916+17G>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000417634
  ensembl transcript: ENST00000494649
  gene symbol: APTX
  hgvsc: ENST00000494649.1:c.*719+17G>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000369147
  ensembl transcript: ENST00000379819
  gene symbol: APTX
  hgvsc: ENST00000379819.1:c.916+17G>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000417750
  ensembl transcript: ENST00000474658
  gene symbol: APTX
  hgvsc: ENST00000474658.2:c.*317+17G>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000419289
  ensembl transcript: ENST00000482687
  gene symbol: APTX
  hgvsc: ENST00000482687.1:c.*68+17G>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000311547
  ensembl transcript: ENST00000309615
  gene symbol: APTX
  hgvsc: ENST00000309615.3:c.916+17G>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000418733
  ensembl transcript: ENST00000467331
  gene symbol: APTX
  hgvsc: ENST00000467331.1:c.*719+17G>C
  variant of: http://identifiers.org/hgnc/15984
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP

9-32974440-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32974440
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 32974440
    reference: chr 9
allele count: 1
allele frequency: 8.555783709787816e-6
allele num: 116880
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000311547
  ensembl transcript: ENST00000309615
  gene symbol: APTX
  hgvsc: ENST00000309615.3:c.916+16T>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000418311
  ensembl transcript: ENST00000460940
  gene symbol: APTX
  hgvsc: ENST00000460940.1:c.*492+16T>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000417634
  ensembl transcript: ENST00000494649
  gene symbol: APTX
  hgvsc: ENST00000494649.1:c.*719+16T>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000418144
  ensembl transcript: ENST00000485479
  gene symbol: APTX
  hgvsc: ENST00000485479.1:c.*604+16T>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000369141
  ensembl transcript: ENST00000379813
  gene symbol: APTX
  hgvsc: ENST00000379813.3:c.874+16T>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000419430
  ensembl transcript: ENST00000465003
  gene symbol: APTX
  hgvsc: ENST00000465003.1:c.*501+16T>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000369145
  ensembl transcript: ENST00000379817
  gene symbol: APTX
  hgvsc: ENST00000379817.2:c.874+16T>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000417750
  ensembl transcript: ENST00000474658
  gene symbol: APTX
  hgvsc: ENST00000474658.2:c.*317+16T>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000369147
  ensembl transcript: ENST00000379819
  gene symbol: APTX
  hgvsc: ENST00000379819.1:c.916+16T>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000420071
  ensembl transcript: ENST00000479656
  gene symbol: APTX
  hgvsc: ENST00000479656.1:c.*719+16T>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000420263
  ensembl transcript: ENST00000468275
  gene symbol: APTX
  hgvsc: ENST00000468275.1:c.874+16T>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000380357
  ensembl transcript: ENST00000397172
  gene symbol: APTX
  hgvsc: ENST00000397172.3:c.700+16T>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000400806
  ensembl transcript: ENST00000436040
  gene symbol: APTX
  hgvsc: ENST00000436040.2:c.*68+16T>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000369153
  ensembl transcript: ENST00000379825
  gene symbol: APTX
  hgvsc: ENST00000379825.2:c.916+16T>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000418733
  ensembl transcript: ENST00000467331
  gene symbol: APTX
  hgvsc: ENST00000467331.1:c.*719+16T>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000419846
  ensembl transcript: ENST00000463596
  gene symbol: APTX
  hgvsc: ENST00000463596.1:c.874+16T>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000419289
  ensembl transcript: ENST00000482687
  gene symbol: APTX
  hgvsc: ENST00000482687.1:c.*68+16T>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000419623
  ensembl transcript: ENST00000495360
  gene symbol: APTX
  hgvsc: ENST00000495360.1:c.*604+16T>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000419723
  ensembl transcript: ENST00000483148
  gene symbol: APTX
  hgvsc: ENST00000483148.1:c.*274+16T>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000419042
  ensembl transcript: ENST00000476858
  gene symbol: APTX
  hgvsc: ENST00000476858.1:c.754+16T>C
  variant of: http://identifiers.org/hgnc/15984
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

9-32974442-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32974442
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 32974442
    reference: chr 9
allele count: 1
allele frequency: 8.521516829995738e-6
allele num: 117350
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000419623
  ensembl transcript: ENST00000495360
  gene symbol: APTX
  hgvsc: ENST00000495360.1:c.*604+14C>T
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000419846
  ensembl transcript: ENST00000463596
  gene symbol: APTX
  hgvsc: ENST00000463596.1:c.874+14C>T
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000311547
  ensembl transcript: ENST00000309615
  gene symbol: APTX
  hgvsc: ENST00000309615.3:c.916+14C>T
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000369141
  ensembl transcript: ENST00000379813
  gene symbol: APTX
  hgvsc: ENST00000379813.3:c.874+14C>T
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000420263
  ensembl transcript: ENST00000468275
  gene symbol: APTX
  hgvsc: ENST00000468275.1:c.874+14C>T
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000380357
  ensembl transcript: ENST00000397172
  gene symbol: APTX
  hgvsc: ENST00000397172.3:c.700+14C>T
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000418733
  ensembl transcript: ENST00000467331
  gene symbol: APTX
  hgvsc: ENST00000467331.1:c.*719+14C>T
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000420071
  ensembl transcript: ENST00000479656
  gene symbol: APTX
  hgvsc: ENST00000479656.1:c.*719+14C>T
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000418144
  ensembl transcript: ENST00000485479
  gene symbol: APTX
  hgvsc: ENST00000485479.1:c.*604+14C>T
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000418311
  ensembl transcript: ENST00000460940
  gene symbol: APTX
  hgvsc: ENST00000460940.1:c.*492+14C>T
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000419723
  ensembl transcript: ENST00000483148
  gene symbol: APTX
  hgvsc: ENST00000483148.1:c.*274+14C>T
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000369153
  ensembl transcript: ENST00000379825
  gene symbol: APTX
  hgvsc: ENST00000379825.2:c.916+14C>T
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000369145
  ensembl transcript: ENST00000379817
  gene symbol: APTX
  hgvsc: ENST00000379817.2:c.874+14C>T
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000400806
  ensembl transcript: ENST00000436040
  gene symbol: APTX
  hgvsc: ENST00000436040.2:c.*68+14C>T
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000369147
  ensembl transcript: ENST00000379819
  gene symbol: APTX
  hgvsc: ENST00000379819.1:c.916+14C>T
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000419042
  ensembl transcript: ENST00000476858
  gene symbol: APTX
  hgvsc: ENST00000476858.1:c.754+14C>T
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000419430
  ensembl transcript: ENST00000465003
  gene symbol: APTX
  hgvsc: ENST00000465003.1:c.*501+14C>T
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000417804
  ensembl transcript: ENST00000472896
  gene symbol: APTX
  hgvsc: ENST00000472896.1:c.*377+14C>T
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000419289
  ensembl transcript: ENST00000482687
  gene symbol: APTX
  hgvsc: ENST00000482687.1:c.*68+14C>T
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000417750
  ensembl transcript: ENST00000474658
  gene symbol: APTX
  hgvsc: ENST00000474658.2:c.*317+14C>T
  variant of: http://identifiers.org/hgnc/15984
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

9-32974457-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32974457
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 32974457
    reference: chr 9
allele count: 4
allele frequency: 3.338117969089028e-5
allele num: 119828
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000369147
  ensembl transcript: ENST00000379819
  gene symbol: APTX
  hgvsc: ENST00000379819.1:c.915A>G
  hgvsp: ENST00000379819.1:c.915A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000369145
  ensembl transcript: ENST00000379817
  gene symbol: APTX
  hgvsc: ENST00000379817.2:c.873A>G
  hgvsp: ENST00000379817.2:c.873A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000420071
  ensembl transcript: ENST00000479656
  gene symbol: APTX
  hgvsc: ENST00000479656.1:c.*718A>G
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000417750
  ensembl transcript: ENST00000474658
  gene symbol: APTX
  hgvsc: ENST00000474658.2:c.*316A>G
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000369141
  ensembl transcript: ENST00000379813
  gene symbol: APTX
  hgvsc: ENST00000379813.3:c.873A>G
  hgvsp: ENST00000379813.3:c.873A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000400806
  ensembl transcript: ENST00000436040
  gene symbol: APTX
  hgvsc: ENST00000436040.2:c.*67A>G
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000418311
  ensembl transcript: ENST00000460940
  gene symbol: APTX
  hgvsc: ENST00000460940.1:c.*491A>G
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000419042
  ensembl transcript: ENST00000476858
  gene symbol: APTX
  hgvsc: ENST00000476858.1:c.753A>G
  hgvsp: ENST00000476858.1:c.753A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000369153
  ensembl transcript: ENST00000379825
  gene symbol: APTX
  hgvsc: ENST00000379825.2:c.915A>G
  hgvsp: ENST00000379825.2:c.915A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000420263
  ensembl transcript: ENST00000468275
  gene symbol: APTX
  hgvsc: ENST00000468275.1:c.873A>G
  hgvsp: ENST00000468275.1:c.873A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000311547
  ensembl transcript: ENST00000309615
  gene symbol: APTX
  hgvsc: ENST00000309615.3:c.915A>G
  hgvsp: ENST00000309615.3:c.915A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000380357
  ensembl transcript: ENST00000397172
  gene symbol: APTX
  hgvsc: ENST00000397172.3:c.699A>G
  hgvsp: ENST00000397172.3:c.699A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000419289
  ensembl transcript: ENST00000482687
  gene symbol: APTX
  hgvsc: ENST00000482687.1:c.*67A>G
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000419430
  ensembl transcript: ENST00000465003
  gene symbol: APTX
  hgvsc: ENST00000465003.1:c.*500A>G
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000419723
  ensembl transcript: ENST00000483148
  gene symbol: APTX
  hgvsc: ENST00000483148.1:c.*273A>G
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000418733
  ensembl transcript: ENST00000467331
  gene symbol: APTX
  hgvsc: ENST00000467331.1:c.*718A>G
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000419846
  ensembl transcript: ENST00000463596
  gene symbol: APTX
  hgvsc: ENST00000463596.1:c.873A>G
  hgvsp: ENST00000463596.1:c.873A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15984
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.873A>G
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum

9-32974462-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32974462
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 32974462
    reference: chr 9
allele count: 1
allele frequency: 8.3166999334664e-6
allele num: 120240
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000311547
  ensembl transcript: ENST00000309615
  gene symbol: APTX
  hgvsc: ENST00000309615.3:c.910T>A
  hgvsp: ENSP00000311547.3:p.Ser304Thr
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000419723
  ensembl transcript: ENST00000483148
  gene symbol: APTX
  hgvsc: ENST00000483148.1:c.*268T>A
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000369141
  ensembl transcript: ENST00000379813
  gene symbol: APTX
  hgvsc: ENST00000379813.3:c.868T>A
  hgvsp: ENSP00000369141.3:p.Ser290Thr
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000369145
  ensembl transcript: ENST00000379817
  gene symbol: APTX
  hgvsc: ENST00000379817.2:c.868T>A
  hgvsp: ENSP00000369145.2:p.Ser290Thr
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000369147
  ensembl transcript: ENST00000379819
  gene symbol: APTX
  hgvsc: ENST00000379819.1:c.910T>A
  hgvsp: ENSP00000369147.1:p.Ser304Thr
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000400806
  ensembl transcript: ENST00000436040
  gene symbol: APTX
  hgvsc: ENST00000436040.2:c.*62T>A
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000417804
  ensembl transcript: ENST00000472896
  gene symbol: APTX
  hgvsc: ENST00000472896.1:c.*371T>A
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000369153
  ensembl transcript: ENST00000379825
  gene symbol: APTX
  hgvsc: ENST00000379825.2:c.910T>A
  hgvsp: ENSP00000369153.2:p.Ser304Thr
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000419846
  ensembl transcript: ENST00000463596
  gene symbol: APTX
  hgvsc: ENST00000463596.1:c.868T>A
  hgvsp: ENSP00000419846.1:p.Ser290Thr
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000419623
  ensembl transcript: ENST00000495360
  gene symbol: APTX
  hgvsc: ENST00000495360.1:c.*598T>A
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000418144
  ensembl transcript: ENST00000485479
  gene symbol: APTX
  hgvsc: ENST00000485479.1:c.*598T>A
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000420071
  ensembl transcript: ENST00000479656
  gene symbol: APTX
  hgvsc: ENST00000479656.1:c.*713T>A
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000419042
  ensembl transcript: ENST00000476858
  gene symbol: APTX
  hgvsc: ENST00000476858.1:c.748T>A
  hgvsp: ENSP00000419042.1:p.Ser250Thr
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000417750
  ensembl transcript: ENST00000474658
  gene symbol: APTX
  hgvsc: ENST00000474658.2:c.*311T>A
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000420263
  ensembl transcript: ENST00000468275
  gene symbol: APTX
  hgvsc: ENST00000468275.1:c.868T>A
  hgvsp: ENSP00000420263.1:p.Ser290Thr
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000380357
  ensembl transcript: ENST00000397172
  gene symbol: APTX
  hgvsc: ENST00000397172.3:c.694T>A
  hgvsp: ENSP00000380357.3:p.Ser232Thr
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000418733
  ensembl transcript: ENST00000467331
  gene symbol: APTX
  hgvsc: ENST00000467331.1:c.*713T>A
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000417634
  ensembl transcript: ENST00000494649
  gene symbol: APTX
  hgvsc: ENST00000494649.1:c.*713T>A
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000419289
  ensembl transcript: ENST00000482687
  gene symbol: APTX
  hgvsc: ENST00000482687.1:c.*62T>A
  variant of: http://identifiers.org/hgnc/15984
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser290Thr
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

9-32974465-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32974465
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 32974465
    reference: chr 9
allele count: 2
allele frequency: 1.661819692563357e-5
allele num: 120350
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000417804
  ensembl transcript: ENST00000472896
  gene symbol: APTX
  hgvsc: ENST00000472896.1:c.*368G>A
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000419723
  ensembl transcript: ENST00000483148
  gene symbol: APTX
  hgvsc: ENST00000483148.1:c.*265G>A
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000369145
  ensembl transcript: ENST00000379817
  gene symbol: APTX
  hgvsc: ENST00000379817.2:c.865G>A
  hgvsp: ENSP00000369145.2:p.Glu289Lys
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000369147
  ensembl transcript: ENST00000379819
  gene symbol: APTX
  hgvsc: ENST00000379819.1:c.907G>A
  hgvsp: ENSP00000369147.1:p.Glu303Lys
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000380357
  ensembl transcript: ENST00000397172
  gene symbol: APTX
  hgvsc: ENST00000397172.3:c.691G>A
  hgvsp: ENSP00000380357.3:p.Glu231Lys
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000419846
  ensembl transcript: ENST00000463596
  gene symbol: APTX
  hgvsc: ENST00000463596.1:c.865G>A
  hgvsp: ENSP00000419846.1:p.Glu289Lys
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000311547
  ensembl transcript: ENST00000309615
  gene symbol: APTX
  hgvsc: ENST00000309615.3:c.907G>A
  hgvsp: ENSP00000311547.3:p.Glu303Lys
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000418144
  ensembl transcript: ENST00000485479
  gene symbol: APTX
  hgvsc: ENST00000485479.1:c.*595G>A
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000419623
  ensembl transcript: ENST00000495360
  gene symbol: APTX
  hgvsc: ENST00000495360.1:c.*595G>A
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000420263
  ensembl transcript: ENST00000468275
  gene symbol: APTX
  hgvsc: ENST00000468275.1:c.865G>A
  hgvsp: ENSP00000420263.1:p.Glu289Lys
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000419042
  ensembl transcript: ENST00000476858
  gene symbol: APTX
  hgvsc: ENST00000476858.1:c.745G>A
  hgvsp: ENSP00000419042.1:p.Glu249Lys
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000419289
  ensembl transcript: ENST00000482687
  gene symbol: APTX
  hgvsc: ENST00000482687.1:c.*59G>A
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000418733
  ensembl transcript: ENST00000467331
  gene symbol: APTX
  hgvsc: ENST00000467331.1:c.*710G>A
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000419430
  ensembl transcript: ENST00000465003
  gene symbol: APTX
  hgvsc: ENST00000465003.1:c.*492G>A
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000418311
  ensembl transcript: ENST00000460940
  gene symbol: APTX
  hgvsc: ENST00000460940.1:c.*483G>A
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000400806
  ensembl transcript: ENST00000436040
  gene symbol: APTX
  hgvsc: ENST00000436040.2:c.*59G>A
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000369153
  ensembl transcript: ENST00000379825
  gene symbol: APTX
  hgvsc: ENST00000379825.2:c.907G>A
  hgvsp: ENSP00000369153.2:p.Glu303Lys
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000417750
  ensembl transcript: ENST00000474658
  gene symbol: APTX
  hgvsc: ENST00000474658.2:c.*308G>A
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000420071
  ensembl transcript: ENST00000479656
  gene symbol: APTX
  hgvsc: ENST00000479656.1:c.*710G>A
  variant of: http://identifiers.org/hgnc/15984
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu289Lys
num of homozygotes: 1
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD

9-32974476-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32974476
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 32974476
    reference: chr 9
allele count: 1
allele frequency: 8.275405494869249e-6
allele num: 120840
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000380357
  ensembl transcript: ENST00000397172
  gene symbol: APTX
  hgvsc: ENST00000397172.3:c.680A>T
  hgvsp: ENSP00000380357.3:p.Glu227Val
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000369147
  ensembl transcript: ENST00000379819
  gene symbol: APTX
  hgvsc: ENST00000379819.1:c.896A>T
  hgvsp: ENSP00000369147.1:p.Glu299Val
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000418311
  ensembl transcript: ENST00000460940
  gene symbol: APTX
  hgvsc: ENST00000460940.1:c.*472A>T
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000417804
  ensembl transcript: ENST00000472896
  gene symbol: APTX
  hgvsc: ENST00000472896.1:c.*357A>T
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000418144
  ensembl transcript: ENST00000485479
  gene symbol: APTX
  hgvsc: ENST00000485479.1:c.*584A>T
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000417634
  ensembl transcript: ENST00000494649
  gene symbol: APTX
  hgvsc: ENST00000494649.1:c.*699A>T
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000400806
  ensembl transcript: ENST00000436040
  gene symbol: APTX
  hgvsc: ENST00000436040.2:c.*48A>T
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000369141
  ensembl transcript: ENST00000379813
  gene symbol: APTX
  hgvsc: ENST00000379813.3:c.854A>T
  hgvsp: ENSP00000369141.3:p.Glu285Val
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000418733
  ensembl transcript: ENST00000467331
  gene symbol: APTX
  hgvsc: ENST00000467331.1:c.*699A>T
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000419430
  ensembl transcript: ENST00000465003
  gene symbol: APTX
  hgvsc: ENST00000465003.1:c.*481A>T
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000419623
  ensembl transcript: ENST00000495360
  gene symbol: APTX
  hgvsc: ENST00000495360.1:c.*584A>T
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000419846
  ensembl transcript: ENST00000463596
  gene symbol: APTX
  hgvsc: ENST00000463596.1:c.854A>T
  hgvsp: ENSP00000419846.1:p.Glu285Val
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000419723
  ensembl transcript: ENST00000483148
  gene symbol: APTX
  hgvsc: ENST00000483148.1:c.*254A>T
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000311547
  ensembl transcript: ENST00000309615
  gene symbol: APTX
  hgvsc: ENST00000309615.3:c.896A>T
  hgvsp: ENSP00000311547.3:p.Glu299Val
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000369153
  ensembl transcript: ENST00000379825
  gene symbol: APTX
  hgvsc: ENST00000379825.2:c.896A>T
  hgvsp: ENSP00000369153.2:p.Glu299Val
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000419042
  ensembl transcript: ENST00000476858
  gene symbol: APTX
  hgvsc: ENST00000476858.1:c.734A>T
  hgvsp: ENSP00000419042.1:p.Glu245Val
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000420263
  ensembl transcript: ENST00000468275
  gene symbol: APTX
  hgvsc: ENST00000468275.1:c.854A>T
  hgvsp: ENSP00000420263.1:p.Glu285Val
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000369145
  ensembl transcript: ENST00000379817
  gene symbol: APTX
  hgvsc: ENST00000379817.2:c.854A>T
  hgvsp: ENSP00000369145.2:p.Glu285Val
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000419289
  ensembl transcript: ENST00000482687
  gene symbol: APTX
  hgvsc: ENST00000482687.1:c.*48A>T
  variant of: http://identifiers.org/hgnc/15984
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu285Val
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

6-154568539-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 154568539
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 154568539
    reference: chr 6
allele count: 1
allele frequency: 8.250280509537325e-6
allele num: 121208
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000356189
  ensembl transcript: ENST00000367220
  gene symbol: IPCEF1
  hgvsc: ENST00000367220.4:c.76+44T>C
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000265198
  ensembl transcript: ENST00000265198
  gene symbol: IPCEF1
  hgvsc: ENST00000265198.4:c.73+44T>C
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl transcript: ENST00000518162
  gene symbol: IPCEF1
  hgvsc: ENST00000518162.1:n.132+44T>C
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000394751
  ensembl transcript: ENST00000422970
  gene symbol: IPCEF1
  hgvsc: ENST00000422970.2:c.76+44T>C
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000429972
  ensembl transcript: ENST00000519190
  gene symbol: IPCEF1
  hgvsc: ENST00000519190.1:c.-226T>C
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000431004
  ensembl transcript: ENST00000520261
  gene symbol: IPCEF1
  hgvsc: ENST00000520261.1:c.73+44T>C
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000430287
  ensembl transcript: ENST00000519344
  gene symbol: IPCEF1
  hgvsc: ENST00000519344.1:c.-12+44T>C
  variant of: http://identifiers.org/hgnc/21204
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10852
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5020
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2307
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13416
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9981
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3320
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7433
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1898
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7823
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5541
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3437
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff

6-154568540-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 154568540
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 154568540
    reference: chr 6
allele count: 5
allele frequency: 4.125140254768662e-5
allele num: 121208
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl transcript: ENST00000518162
  gene symbol: IPCEF1
  hgvsc: ENST00000518162.1:n.132+43G>C
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000356189
  ensembl transcript: ENST00000367220
  gene symbol: IPCEF1
  hgvsc: ENST00000367220.4:c.76+43G>C
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000431004
  ensembl transcript: ENST00000520261
  gene symbol: IPCEF1
  hgvsc: ENST00000520261.1:c.73+43G>C
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000394751
  ensembl transcript: ENST00000422970
  gene symbol: IPCEF1
  hgvsc: ENST00000422970.2:c.76+43G>C
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000429972
  ensembl transcript: ENST00000519190
  gene symbol: IPCEF1
  hgvsc: ENST00000519190.1:c.-227G>C
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000430287
  ensembl transcript: ENST00000519344
  gene symbol: IPCEF1
  hgvsc: ENST00000519344.1:c.-12+43G>C
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000265198
  ensembl transcript: ENST00000265198
  gene symbol: IPCEF1
  hgvsc: ENST00000265198.4:c.73+43G>C
  variant of: http://identifiers.org/hgnc/21204
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9978
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1898
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10859
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2318
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7439
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3320
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13421
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5021
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5534
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3430
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3873
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13431
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7821
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: QD

6-154568541-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 154568541
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 154568541
    reference: chr 6
allele count: 1
allele frequency: 8.249599894405122e-6
allele num: 121218
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl transcript: ENST00000518162
  gene symbol: IPCEF1
  hgvsc: ENST00000518162.1:n.132+42C>T
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000429972
  ensembl transcript: ENST00000519190
  gene symbol: IPCEF1
  hgvsc: ENST00000519190.1:c.-228C>T
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000431004
  ensembl transcript: ENST00000520261
  gene symbol: IPCEF1
  hgvsc: ENST00000520261.1:c.73+42C>T
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000356189
  ensembl transcript: ENST00000367220
  gene symbol: IPCEF1
  hgvsc: ENST00000367220.4:c.76+42C>T
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000265198
  ensembl transcript: ENST00000265198
  gene symbol: IPCEF1
  hgvsc: ENST00000265198.4:c.73+42C>T
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000394751
  ensembl transcript: ENST00000422970
  gene symbol: IPCEF1
  hgvsc: ENST00000422970.2:c.76+42C>T
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000430287
  ensembl transcript: ENST00000519344
  gene symbol: IPCEF1
  hgvsc: ENST00000519344.1:c.-12+42C>T
  variant of: http://identifiers.org/hgnc/21204
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7432
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13433
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5023
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1899
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2332
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3319
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9980
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10856
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18787
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3426
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4703
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3873
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

6-154568541-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 154568541
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 154568541
    reference: chr 6
allele count: 1
allele frequency: 8.249599894405122e-6
allele num: 121218
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000265198
  ensembl transcript: ENST00000265198
  gene symbol: IPCEF1
  hgvsc: ENST00000265198.4:c.73+42C>G
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl transcript: ENST00000518162
  gene symbol: IPCEF1
  hgvsc: ENST00000518162.1:n.132+42C>G
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000394751
  ensembl transcript: ENST00000422970
  gene symbol: IPCEF1
  hgvsc: ENST00000422970.2:c.76+42C>G
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000430287
  ensembl transcript: ENST00000519344
  gene symbol: IPCEF1
  hgvsc: ENST00000519344.1:c.-12+42C>G
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000356189
  ensembl transcript: ENST00000367220
  gene symbol: IPCEF1
  hgvsc: ENST00000367220.4:c.76+42C>G
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000431004
  ensembl transcript: ENST00000520261
  gene symbol: IPCEF1
  hgvsc: ENST00000520261.1:c.73+42C>G
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000429972
  ensembl transcript: ENST00000519190
  gene symbol: IPCEF1
  hgvsc: ENST00000519190.1:c.-228C>G
  variant of: http://identifiers.org/hgnc/21204
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13433
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7432
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9980
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5023
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3319
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10856
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1899
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2332
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5527
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2409
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3873
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: DP

9-32974484-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32974484
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 32974484
    reference: chr 9
allele count: 1
allele frequency: 8.267332462507647e-6
allele num: 120958
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000417804
  ensembl transcript: ENST00000472896
  gene symbol: APTX
  hgvsc: ENST00000472896.1:c.*349C>G
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000380357
  ensembl transcript: ENST00000397172
  gene symbol: APTX
  hgvsc: ENST00000397172.3:c.672C>G
  hgvsp: ENSP00000380357.3:p.Phe224Leu
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000311547
  ensembl transcript: ENST00000309615
  gene symbol: APTX
  hgvsc: ENST00000309615.3:c.888C>G
  hgvsp: ENSP00000311547.3:p.Phe296Leu
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000419042
  ensembl transcript: ENST00000476858
  gene symbol: APTX
  hgvsc: ENST00000476858.1:c.726C>G
  hgvsp: ENSP00000419042.1:p.Phe242Leu
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000369153
  ensembl transcript: ENST00000379825
  gene symbol: APTX
  hgvsc: ENST00000379825.2:c.888C>G
  hgvsp: ENSP00000369153.2:p.Phe296Leu
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000369141
  ensembl transcript: ENST00000379813
  gene symbol: APTX
  hgvsc: ENST00000379813.3:c.846C>G
  hgvsp: ENSP00000369141.3:p.Phe282Leu
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000420071
  ensembl transcript: ENST00000479656
  gene symbol: APTX
  hgvsc: ENST00000479656.1:c.*691C>G
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000419430
  ensembl transcript: ENST00000465003
  gene symbol: APTX
  hgvsc: ENST00000465003.1:c.*473C>G
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000419723
  ensembl transcript: ENST00000483148
  gene symbol: APTX
  hgvsc: ENST00000483148.1:c.*246C>G
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000419846
  ensembl transcript: ENST00000463596
  gene symbol: APTX
  hgvsc: ENST00000463596.1:c.846C>G
  hgvsp: ENSP00000419846.1:p.Phe282Leu
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000417750
  ensembl transcript: ENST00000474658
  gene symbol: APTX
  hgvsc: ENST00000474658.2:c.*289C>G
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000369145
  ensembl transcript: ENST00000379817
  gene symbol: APTX
  hgvsc: ENST00000379817.2:c.846C>G
  hgvsp: ENSP00000369145.2:p.Phe282Leu
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000420263
  ensembl transcript: ENST00000468275
  gene symbol: APTX
  hgvsc: ENST00000468275.1:c.846C>G
  hgvsp: ENSP00000420263.1:p.Phe282Leu
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000369147
  ensembl transcript: ENST00000379819
  gene symbol: APTX
  hgvsc: ENST00000379819.1:c.888C>G
  hgvsp: ENSP00000369147.1:p.Phe296Leu
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000419623
  ensembl transcript: ENST00000495360
  gene symbol: APTX
  hgvsc: ENST00000495360.1:c.*576C>G
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000418733
  ensembl transcript: ENST00000467331
  gene symbol: APTX
  hgvsc: ENST00000467331.1:c.*691C>G
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000417634
  ensembl transcript: ENST00000494649
  gene symbol: APTX
  hgvsc: ENST00000494649.1:c.*691C>G
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000400806
  ensembl transcript: ENST00000436040
  gene symbol: APTX
  hgvsc: ENST00000436040.2:c.*40C>G
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000418144
  ensembl transcript: ENST00000485479
  gene symbol: APTX
  hgvsc: ENST00000485479.1:c.*576C>G
  variant of: http://identifiers.org/hgnc/15984
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Phe282Leu
num of homozygotes: 0
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: QD

9-32974493-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32974493
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 32974493
    reference: chr 9
allele count: 1
allele frequency: 8.258729477057249e-6
allele num: 121084
alternate allele: G
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000419042
  ensembl transcript: ENST00000476858
  gene symbol: APTX
  hgvsc: ENST00000476858.1:c.717G>C
  hgvsp: ENSP00000419042.1:p.Trp239Cys
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000369145
  ensembl transcript: ENST00000379817
  gene symbol: APTX
  hgvsc: ENST00000379817.2:c.837G>C
  hgvsp: ENSP00000369145.2:p.Trp279Cys
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000419846
  ensembl transcript: ENST00000463596
  gene symbol: APTX
  hgvsc: ENST00000463596.1:c.837G>C
  hgvsp: ENSP00000419846.1:p.Trp279Cys
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000419623
  ensembl transcript: ENST00000495360
  gene symbol: APTX
  hgvsc: ENST00000495360.1:c.*567G>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000369153
  ensembl transcript: ENST00000379825
  gene symbol: APTX
  hgvsc: ENST00000379825.2:c.879G>C
  hgvsp: ENSP00000369153.2:p.Trp293Cys
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000420263
  ensembl transcript: ENST00000468275
  gene symbol: APTX
  hgvsc: ENST00000468275.1:c.837G>C
  hgvsp: ENSP00000420263.1:p.Trp279Cys
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000380357
  ensembl transcript: ENST00000397172
  gene symbol: APTX
  hgvsc: ENST00000397172.3:c.663G>C
  hgvsp: ENSP00000380357.3:p.Trp221Cys
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000417634
  ensembl transcript: ENST00000494649
  gene symbol: APTX
  hgvsc: ENST00000494649.1:c.*682G>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: true
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000369141
  ensembl transcript: ENST00000379813
  gene symbol: APTX
  hgvsc: ENST00000379813.3:c.837G>C
  hgvsp: ENSP00000369141.3:p.Trp279Cys
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000419430
  ensembl transcript: ENST00000465003
  gene symbol: APTX
  hgvsc: ENST00000465003.1:c.*464G>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000311547
  ensembl transcript: ENST00000309615
  gene symbol: APTX
  hgvsc: ENST00000309615.3:c.879G>C
  hgvsp: ENSP00000311547.3:p.Trp293Cys
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000418733
  ensembl transcript: ENST00000467331
  gene symbol: APTX
  hgvsc: ENST00000467331.1:c.*682G>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000420071
  ensembl transcript: ENST00000479656
  gene symbol: APTX
  hgvsc: ENST00000479656.1:c.*682G>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000417750
  ensembl transcript: ENST00000474658
  gene symbol: APTX
  hgvsc: ENST00000474658.2:c.*280G>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000417804
  ensembl transcript: ENST00000472896
  gene symbol: APTX
  hgvsc: ENST00000472896.1:c.*340G>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000418144
  ensembl transcript: ENST00000485479
  gene symbol: APTX
  hgvsc: ENST00000485479.1:c.*567G>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000419723
  ensembl transcript: ENST00000483148
  gene symbol: APTX
  hgvsc: ENST00000483148.1:c.*237G>C
  variant of: http://identifiers.org/hgnc/15984
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Trp279Cys
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

9-32974493-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32974493
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 32974493
    reference: chr 9
allele count: 13
allele frequency: 1.073634832017442e-4
allele num: 121084
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000419430
  ensembl transcript: ENST00000465003
  gene symbol: APTX
  hgvsc: ENST00000465003.1:c.*464G>A
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000418733
  ensembl transcript: ENST00000467331
  gene symbol: APTX
  hgvsc: ENST00000467331.1:c.*682G>A
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: stop_gained
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000419042
  ensembl transcript: ENST00000476858
  gene symbol: APTX
  hgvsc: ENST00000476858.1:c.717G>A
  hgvsp: ENSP00000419042.1:p.Trp239Ter
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000419623
  ensembl transcript: ENST00000495360
  gene symbol: APTX
  hgvsc: ENST00000495360.1:c.*567G>A
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000417750
  ensembl transcript: ENST00000474658
  gene symbol: APTX
  hgvsc: ENST00000474658.2:c.*280G>A
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000419723
  ensembl transcript: ENST00000483148
  gene symbol: APTX
  hgvsc: ENST00000483148.1:c.*237G>A
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000400806
  ensembl transcript: ENST00000436040
  gene symbol: APTX
  hgvsc: ENST00000436040.2:c.*31G>A
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: stop_gained
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000380357
  ensembl transcript: ENST00000397172
  gene symbol: APTX
  hgvsc: ENST00000397172.3:c.663G>A
  hgvsp: ENSP00000380357.3:p.Trp221Ter
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: stop_gained
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000369153
  ensembl transcript: ENST00000379825
  gene symbol: APTX
  hgvsc: ENST00000379825.2:c.879G>A
  hgvsp: ENSP00000369153.2:p.Trp293Ter
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: true
  clinical significance: pathogenic
  consequence: stop_gained
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000369141
  ensembl transcript: ENST00000379813
  gene symbol: APTX
  hgvsc: ENST00000379813.3:c.837G>A
  hgvsp: ENSP00000369141.3:p.Trp279Ter
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: stop_gained
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000419846
  ensembl transcript: ENST00000463596
  gene symbol: APTX
  hgvsc: ENST00000463596.1:c.837G>A
  hgvsp: ENSP00000419846.1:p.Trp279Ter
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000417804
  ensembl transcript: ENST00000472896
  gene symbol: APTX
  hgvsc: ENST00000472896.1:c.*340G>A
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: stop_gained
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000311547
  ensembl transcript: ENST00000309615
  gene symbol: APTX
  hgvsc: ENST00000309615.3:c.879G>A
  hgvsp: ENSP00000311547.3:p.Trp293Ter
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: stop_gained
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000420263
  ensembl transcript: ENST00000468275
  gene symbol: APTX
  hgvsc: ENST00000468275.1:c.837G>A
  hgvsp: ENSP00000420263.1:p.Trp279Ter
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000420071
  ensembl transcript: ENST00000479656
  gene symbol: APTX
  hgvsc: ENST00000479656.1:c.*682G>A
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: stop_gained
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000369147
  ensembl transcript: ENST00000379819
  gene symbol: APTX
  hgvsc: ENST00000379819.1:c.879G>A
  hgvsp: ENSP00000369147.1:p.Trp293Ter
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: stop_gained
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000369145
  ensembl transcript: ENST00000379817
  gene symbol: APTX
  hgvsc: ENST00000379817.2:c.837G>A
  hgvsp: ENSP00000369145.2:p.Trp279Ter
  variant of: http://identifiers.org/hgnc/15984
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Trp279Ter
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

9-32974495-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32974495
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 32974495
    reference: chr 9
allele count: 1
allele frequency: 8.257365570088519e-6
allele num: 121104
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000419623
  ensembl transcript: ENST00000495360
  gene symbol: APTX
  hgvsc: ENST00000495360.1:c.*565T>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000419042
  ensembl transcript: ENST00000476858
  gene symbol: APTX
  hgvsc: ENST00000476858.1:c.715T>C
  hgvsp: ENSP00000419042.1:p.Trp239Arg
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000400806
  ensembl transcript: ENST00000436040
  gene symbol: APTX
  hgvsc: ENST00000436040.2:c.*29T>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000369145
  ensembl transcript: ENST00000379817
  gene symbol: APTX
  hgvsc: ENST00000379817.2:c.835T>C
  hgvsp: ENSP00000369145.2:p.Trp279Arg
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000420263
  ensembl transcript: ENST00000468275
  gene symbol: APTX
  hgvsc: ENST00000468275.1:c.835T>C
  hgvsp: ENSP00000420263.1:p.Trp279Arg
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000418144
  ensembl transcript: ENST00000485479
  gene symbol: APTX
  hgvsc: ENST00000485479.1:c.*565T>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000418733
  ensembl transcript: ENST00000467331
  gene symbol: APTX
  hgvsc: ENST00000467331.1:c.*680T>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000369147
  ensembl transcript: ENST00000379819
  gene symbol: APTX
  hgvsc: ENST00000379819.1:c.877T>C
  hgvsp: ENSP00000369147.1:p.Trp293Arg
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000417634
  ensembl transcript: ENST00000494649
  gene symbol: APTX
  hgvsc: ENST00000494649.1:c.*680T>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000311547
  ensembl transcript: ENST00000309615
  gene symbol: APTX
  hgvsc: ENST00000309615.3:c.877T>C
  hgvsp: ENSP00000311547.3:p.Trp293Arg
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000417804
  ensembl transcript: ENST00000472896
  gene symbol: APTX
  hgvsc: ENST00000472896.1:c.*338T>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000369153
  ensembl transcript: ENST00000379825
  gene symbol: APTX
  hgvsc: ENST00000379825.2:c.877T>C
  hgvsp: ENSP00000369153.2:p.Trp293Arg
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000419846
  ensembl transcript: ENST00000463596
  gene symbol: APTX
  hgvsc: ENST00000463596.1:c.835T>C
  hgvsp: ENSP00000419846.1:p.Trp279Arg
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000419430
  ensembl transcript: ENST00000465003
  gene symbol: APTX
  hgvsc: ENST00000465003.1:c.*462T>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000380357
  ensembl transcript: ENST00000397172
  gene symbol: APTX
  hgvsc: ENST00000397172.3:c.661T>C
  hgvsp: ENSP00000380357.3:p.Trp221Arg
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000419723
  ensembl transcript: ENST00000483148
  gene symbol: APTX
  hgvsc: ENST00000483148.1:c.*235T>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000418311
  ensembl transcript: ENST00000460940
  gene symbol: APTX
  hgvsc: ENST00000460940.1:c.*453T>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000369141
  ensembl transcript: ENST00000379813
  gene symbol: APTX
  hgvsc: ENST00000379813.3:c.835T>C
  hgvsp: ENSP00000369141.3:p.Trp279Arg
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000417750
  ensembl transcript: ENST00000474658
  gene symbol: APTX
  hgvsc: ENST00000474658.2:c.*278T>C
  variant of: http://identifiers.org/hgnc/15984
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Trp279Arg
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

9-32974496-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32974496
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 32974496
    reference: chr 9
allele count: 2
allele frequency: 1.65144584083365e-5
allele num: 121106
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000418311
  ensembl transcript: ENST00000460940
  gene symbol: APTX
  hgvsc: ENST00000460940.1:c.*452T>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000420071
  ensembl transcript: ENST00000479656
  gene symbol: APTX
  hgvsc: ENST00000479656.1:c.*679T>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000419289
  ensembl transcript: ENST00000482687
  gene symbol: APTX
  hgvsc: ENST00000482687.1:c.*28T>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000419623
  ensembl transcript: ENST00000495360
  gene symbol: APTX
  hgvsc: ENST00000495360.1:c.*564T>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000419723
  ensembl transcript: ENST00000483148
  gene symbol: APTX
  hgvsc: ENST00000483148.1:c.*234T>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000419042
  ensembl transcript: ENST00000476858
  gene symbol: APTX
  hgvsc: ENST00000476858.1:c.714T>C
  hgvsp: ENST00000476858.1:c.714T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000369153
  ensembl transcript: ENST00000379825
  gene symbol: APTX
  hgvsc: ENST00000379825.2:c.876T>C
  hgvsp: ENST00000379825.2:c.876T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000369147
  ensembl transcript: ENST00000379819
  gene symbol: APTX
  hgvsc: ENST00000379819.1:c.876T>C
  hgvsp: ENST00000379819.1:c.876T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000311547
  ensembl transcript: ENST00000309615
  gene symbol: APTX
  hgvsc: ENST00000309615.3:c.876T>C
  hgvsp: ENST00000309615.3:c.876T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000380357
  ensembl transcript: ENST00000397172
  gene symbol: APTX
  hgvsc: ENST00000397172.3:c.660T>C
  hgvsp: ENST00000397172.3:c.660T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000420263
  ensembl transcript: ENST00000468275
  gene symbol: APTX
  hgvsc: ENST00000468275.1:c.834T>C
  hgvsp: ENST00000468275.1:c.834T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000417750
  ensembl transcript: ENST00000474658
  gene symbol: APTX
  hgvsc: ENST00000474658.2:c.*277T>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000369145
  ensembl transcript: ENST00000379817
  gene symbol: APTX
  hgvsc: ENST00000379817.2:c.834T>C
  hgvsp: ENST00000379817.2:c.834T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000419846
  ensembl transcript: ENST00000463596
  gene symbol: APTX
  hgvsc: ENST00000463596.1:c.834T>C
  hgvsp: ENST00000463596.1:c.834T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000417804
  ensembl transcript: ENST00000472896
  gene symbol: APTX
  hgvsc: ENST00000472896.1:c.*337T>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000417634
  ensembl transcript: ENST00000494649
  gene symbol: APTX
  hgvsc: ENST00000494649.1:c.*679T>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000418733
  ensembl transcript: ENST00000467331
  gene symbol: APTX
  hgvsc: ENST00000467331.1:c.*679T>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000400806
  ensembl transcript: ENST00000436040
  gene symbol: APTX
  hgvsc: ENST00000436040.2:c.*28T>C
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000418144
  ensembl transcript: ENST00000485479
  gene symbol: APTX
  hgvsc: ENST00000485479.1:c.*564T>C
  variant of: http://identifiers.org/hgnc/15984
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.His278His
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

9-32974498-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32974498
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 32974498
    reference: chr 9
allele count: 3
allele frequency: 2.477127852825577e-5
allele num: 121108
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000419846
  ensembl transcript: ENST00000463596
  gene symbol: APTX
  hgvsc: ENST00000463596.1:c.832C>T
  hgvsp: ENSP00000419846.1:p.His278Tyr
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000418144
  ensembl transcript: ENST00000485479
  gene symbol: APTX
  hgvsc: ENST00000485479.1:c.*562C>T
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000369141
  ensembl transcript: ENST00000379813
  gene symbol: APTX
  hgvsc: ENST00000379813.3:c.832C>T
  hgvsp: ENSP00000369141.3:p.His278Tyr
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000419430
  ensembl transcript: ENST00000465003
  gene symbol: APTX
  hgvsc: ENST00000465003.1:c.*459C>T
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000418733
  ensembl transcript: ENST00000467331
  gene symbol: APTX
  hgvsc: ENST00000467331.1:c.*677C>T
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000380357
  ensembl transcript: ENST00000397172
  gene symbol: APTX
  hgvsc: ENST00000397172.3:c.658C>T
  hgvsp: ENSP00000380357.3:p.His220Tyr
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000369147
  ensembl transcript: ENST00000379819
  gene symbol: APTX
  hgvsc: ENST00000379819.1:c.874C>T
  hgvsp: ENSP00000369147.1:p.His292Tyr
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000419623
  ensembl transcript: ENST00000495360
  gene symbol: APTX
  hgvsc: ENST00000495360.1:c.*562C>T
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000369153
  ensembl transcript: ENST00000379825
  gene symbol: APTX
  hgvsc: ENST00000379825.2:c.874C>T
  hgvsp: ENSP00000369153.2:p.His292Tyr
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000311547
  ensembl transcript: ENST00000309615
  gene symbol: APTX
  hgvsc: ENST00000309615.3:c.874C>T
  hgvsp: ENSP00000311547.3:p.His292Tyr
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000369145
  ensembl transcript: ENST00000379817
  gene symbol: APTX
  hgvsc: ENST00000379817.2:c.832C>T
  hgvsp: ENSP00000369145.2:p.His278Tyr
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000419042
  ensembl transcript: ENST00000476858
  gene symbol: APTX
  hgvsc: ENST00000476858.1:c.712C>T
  hgvsp: ENSP00000419042.1:p.His238Tyr
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000419723
  ensembl transcript: ENST00000483148
  gene symbol: APTX
  hgvsc: ENST00000483148.1:c.*232C>T
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000417750
  ensembl transcript: ENST00000474658
  gene symbol: APTX
  hgvsc: ENST00000474658.2:c.*275C>T
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000419289
  ensembl transcript: ENST00000482687
  gene symbol: APTX
  hgvsc: ENST00000482687.1:c.*26C>T
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000420263
  ensembl transcript: ENST00000468275
  gene symbol: APTX
  hgvsc: ENST00000468275.1:c.832C>T
  hgvsp: ENSP00000420263.1:p.His278Tyr
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000417634
  ensembl transcript: ENST00000494649
  gene symbol: APTX
  hgvsc: ENST00000494649.1:c.*677C>T
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000418311
  ensembl transcript: ENST00000460940
  gene symbol: APTX
  hgvsc: ENST00000460940.1:c.*450C>T
  variant of: http://identifiers.org/hgnc/15984
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137074
  ensembl protein: ENSP00000420071
  ensembl transcript: ENST00000479656
  gene symbol: APTX
  hgvsc: ENST00000479656.1:c.*677C>T
  variant of: http://identifiers.org/hgnc/15984
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.His278Tyr
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum

6-154568544-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 154568544
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 154568544
    reference: chr 6
allele count: 2
allele frequency: 1.649892756970797e-5
allele num: 121220
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl transcript: ENST00000518162
  gene symbol: IPCEF1
  hgvsc: ENST00000518162.1:n.132+39G>A
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000429972
  ensembl transcript: ENST00000519190
  gene symbol: IPCEF1
  hgvsc: ENST00000519190.1:c.-231G>A
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000430287
  ensembl transcript: ENST00000519344
  gene symbol: IPCEF1
  hgvsc: ENST00000519344.1:c.-12+39G>A
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000394751
  ensembl transcript: ENST00000422970
  gene symbol: IPCEF1
  hgvsc: ENST00000422970.2:c.76+39G>A
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000431004
  ensembl transcript: ENST00000520261
  gene symbol: IPCEF1
  hgvsc: ENST00000520261.1:c.73+39G>A
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000265198
  ensembl transcript: ENST00000265198
  gene symbol: IPCEF1
  hgvsc: ENST00000265198.4:c.73+39G>A
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000356189
  ensembl transcript: ENST00000367220
  gene symbol: IPCEF1
  hgvsc: ENST00000367220.4:c.76+39G>A
  variant of: http://identifiers.org/hgnc/21204
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7430
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10883
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1899
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3320
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9970
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2380
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13437
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5025
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5530
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7816
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3427
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4701
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

6-154568545-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 154568545
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 154568545
    reference: chr 6
allele count: 1
allele frequency: 8.249463784853985e-6
allele num: 121220
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000429972
  ensembl transcript: ENST00000519190
  gene symbol: IPCEF1
  hgvsc: ENST00000519190.1:c.-232T>A
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl transcript: ENST00000518162
  gene symbol: IPCEF1
  hgvsc: ENST00000518162.1:n.132+38T>A
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000431004
  ensembl transcript: ENST00000520261
  gene symbol: IPCEF1
  hgvsc: ENST00000520261.1:c.73+38T>A
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000430287
  ensembl transcript: ENST00000519344
  gene symbol: IPCEF1
  hgvsc: ENST00000519344.1:c.-12+38T>A
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000394751
  ensembl transcript: ENST00000422970
  gene symbol: IPCEF1
  hgvsc: ENST00000422970.2:c.76+38T>A
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000265198
  ensembl transcript: ENST00000265198
  gene symbol: IPCEF1
  hgvsc: ENST00000265198.4:c.73+38T>A
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000356189
  ensembl transcript: ENST00000367220
  gene symbol: IPCEF1
  hgvsc: ENST00000367220.4:c.76+38T>A
  variant of: http://identifiers.org/hgnc/21204
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7425
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5021
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1899
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2398
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9973
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10889
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13438
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3319
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4701
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2411
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3428
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18783
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5533
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS

6-154568558-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 154568558
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 154568558
    reference: chr 6
allele count: 14
allele frequency: 1.154867767640605e-4
allele num: 121226
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000265198
  ensembl transcript: ENST00000265198
  gene symbol: IPCEF1
  hgvsc: ENST00000265198.4:c.73+25T>C
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000430287
  ensembl transcript: ENST00000519344
  gene symbol: IPCEF1
  hgvsc: ENST00000519344.1:c.-12+25T>C
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl transcript: ENST00000518162
  gene symbol: IPCEF1
  hgvsc: ENST00000518162.1:n.132+25T>C
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000431004
  ensembl transcript: ENST00000520261
  gene symbol: IPCEF1
  hgvsc: ENST00000520261.1:c.73+25T>C
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000394751
  ensembl transcript: ENST00000422970
  gene symbol: IPCEF1
  hgvsc: ENST00000422970.2:c.76+25T>C
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000356189
  ensembl transcript: ENST00000367220
  gene symbol: IPCEF1
  hgvsc: ENST00000367220.4:c.76+25T>C
  variant of: http://identifiers.org/hgnc/21204
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2493
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9969
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3318
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13450
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10937
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7424
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5020
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1900
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 7841
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4700
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2411
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3861
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

6-154568559-A-AAGAAACAAAAG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 154568559
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 154568570
    reference: chr 6
allele count: 1
allele frequency: 8.248239000973292e-6
allele num: 121238
alternate allele: AAGAAACAAAAG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000265198
  ensembl transcript: ENST00000265198
  gene symbol: IPCEF1
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000431004
  ensembl transcript: ENST00000520261
  gene symbol: IPCEF1
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000430287
  ensembl transcript: ENST00000519344
  gene symbol: IPCEF1
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000356189
  ensembl transcript: ENST00000367220
  gene symbol: IPCEF1
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000394751
  ensembl transcript: ENST00000422970
  gene symbol: IPCEF1
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl transcript: ENST00000518162
  gene symbol: IPCEF1
  variant of: http://identifiers.org/hgnc/21204
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7425
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3318
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10940
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5020
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13453
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1899
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2498
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9974
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18772
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3863
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13793
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7845
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: FS

6-154568561-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 154568561
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 154568561
    reference: chr 6
allele count: 1
allele frequency: 8.248919391559706e-6
allele num: 121228
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000431004
  ensembl transcript: ENST00000520261
  gene symbol: IPCEF1
  hgvsc: ENST00000520261.1:c.73+22C>T
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000394751
  ensembl transcript: ENST00000422970
  gene symbol: IPCEF1
  hgvsc: ENST00000422970.2:c.76+22C>T
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000356189
  ensembl transcript: ENST00000367220
  gene symbol: IPCEF1
  hgvsc: ENST00000367220.4:c.76+22C>T
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000265198
  ensembl transcript: ENST00000265198
  gene symbol: IPCEF1
  hgvsc: ENST00000265198.4:c.73+22C>T
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl transcript: ENST00000518162
  gene symbol: IPCEF1
  hgvsc: ENST00000518162.1:n.132+22C>T
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000430287
  ensembl transcript: ENST00000519344
  gene symbol: IPCEF1
  hgvsc: ENST00000519344.1:c.-12+22C>T
  variant of: http://identifiers.org/hgnc/21204
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1899
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5020
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7426
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13456
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9971
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10947
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3318
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2512
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13846
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3423
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18771
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

6-154568565-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 154568565
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 154568565
    reference: chr 6
allele count: 1
allele frequency: 8.248647221855616e-6
allele num: 121232
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000430287
  ensembl transcript: ENST00000519344
  gene symbol: IPCEF1
  hgvsc: ENST00000519344.1:c.-12+18G>C
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000265198
  ensembl transcript: ENST00000265198
  gene symbol: IPCEF1
  hgvsc: ENST00000265198.4:c.73+18G>C
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl transcript: ENST00000518162
  gene symbol: IPCEF1
  hgvsc: ENST00000518162.1:n.132+18G>C
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000356189
  ensembl transcript: ENST00000367220
  gene symbol: IPCEF1
  hgvsc: ENST00000367220.4:c.76+18G>C
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000431004
  ensembl transcript: ENST00000520261
  gene symbol: IPCEF1
  hgvsc: ENST00000520261.1:c.73+18G>C
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000394751
  ensembl transcript: ENST00000422970
  gene symbol: IPCEF1
  hgvsc: ENST00000422970.2:c.76+18G>C
  variant of: http://identifiers.org/hgnc/21204
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1899
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9971
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3318
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2540
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7428
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10951
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5020
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13457
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7846
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4700
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3426
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13880
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3864
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ

6-154568602-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 154568602
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 154568602
    reference: chr 6
allele count: 1
allele frequency: 8.25000825000825e-6
allele num: 121212
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000394751
  ensembl transcript: ENST00000422970
  gene symbol: IPCEF1
  hgvsc: ENST00000422970.2:c.57G>A
  hgvsp: ENST00000422970.2:c.57G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000265198
  ensembl transcript: ENST00000265198
  gene symbol: IPCEF1
  hgvsc: ENST00000265198.4:c.54G>A
  hgvsp: ENST00000265198.4:c.54G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000430287
  ensembl transcript: ENST00000519344
  gene symbol: IPCEF1
  hgvsc: ENST00000519344.1:c.-31G>A
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000074706
  ensembl transcript: ENST00000518162
  gene symbol: IPCEF1
  hgvsc: ENST00000518162.1:n.113G>A
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000356189
  ensembl transcript: ENST00000367220
  gene symbol: IPCEF1
  hgvsc: ENST00000367220.4:c.57G>A
  hgvsp: ENST00000367220.4:c.57G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000431004
  ensembl transcript: ENST00000520261
  gene symbol: IPCEF1
  hgvsc: ENST00000520261.1:c.54G>A
  hgvsp: ENST00000520261.1:c.54G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21204
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1898
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9969
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13442
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10980
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5021
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7425
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3320
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2535
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2411
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3862
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4697
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Lys19Lys
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: DP

6-154568605-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 154568605
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 154568605
    reference: chr 6
allele count: 2
allele frequency: 1.650110557407346e-5
allele num: 121204
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000265198
  ensembl transcript: ENST00000265198
  gene symbol: IPCEF1
  hgvsc: ENST00000265198.4:c.51G>A
  hgvsp: ENST00000265198.4:c.51G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000431004
  ensembl transcript: ENST00000520261
  gene symbol: IPCEF1
  hgvsc: ENST00000520261.1:c.51G>A
  hgvsp: ENST00000520261.1:c.51G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000356189
  ensembl transcript: ENST00000367220
  gene symbol: IPCEF1
  hgvsc: ENST00000367220.4:c.54G>A
  hgvsp: ENST00000367220.4:c.54G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000074706
  ensembl transcript: ENST00000518162
  gene symbol: IPCEF1
  hgvsc: ENST00000518162.1:n.110G>A
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000394751
  ensembl transcript: ENST00000422970
  gene symbol: IPCEF1
  hgvsc: ENST00000422970.2:c.54G>A
  hgvsp: ENST00000422970.2:c.54G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000430287
  ensembl transcript: ENST00000519344
  gene symbol: IPCEF1
  hgvsc: ENST00000519344.1:c.-34G>A
  variant of: http://identifiers.org/hgnc/21204
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1897
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13441
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9968
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2528
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5020
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10977
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7426
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3320
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13948
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5518
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4695
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7834
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2411
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gln18Gln
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
population: African
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

6-154568607-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 154568607
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 154568607
    reference: chr 6
allele count: 1
allele frequency: 8.251505899826718e-6
allele num: 121190
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000074706
  ensembl transcript: ENST00000518162
  gene symbol: IPCEF1
  hgvsc: ENST00000518162.1:n.108C>G
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000431004
  ensembl transcript: ENST00000520261
  gene symbol: IPCEF1
  hgvsc: ENST00000520261.1:c.49C>G
  hgvsp: ENSP00000431004.1:p.Gln17Glu
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000265198
  ensembl transcript: ENST00000265198
  gene symbol: IPCEF1
  hgvsc: ENST00000265198.4:c.49C>G
  hgvsp: ENSP00000265198.4:p.Gln17Glu
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000394751
  ensembl transcript: ENST00000422970
  gene symbol: IPCEF1
  hgvsc: ENST00000422970.2:c.52C>G
  hgvsp: ENSP00000394751.2:p.Gln18Glu
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000356189
  ensembl transcript: ENST00000367220
  gene symbol: IPCEF1
  hgvsc: ENST00000367220.4:c.52C>G
  hgvsp: ENSP00000356189.4:p.Gln18Glu
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000430287
  ensembl transcript: ENST00000519344
  gene symbol: IPCEF1
  hgvsc: ENST00000519344.1:c.-36C>G
  variant of: http://identifiers.org/hgnc/21204
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3320
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13440
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1897
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2502
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10977
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9967
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5020
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7426
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7828
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2411
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5515
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4696
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18767
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gln18Glu
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD

6-154568609-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 154568609
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 154568609
    reference: chr 6
allele count: 4
allele frequency: 3.300983693140556e-5
allele num: 121176
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000074706
  ensembl transcript: ENST00000518162
  gene symbol: IPCEF1
  hgvsc: ENST00000518162.1:n.106G>A
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000265198
  ensembl transcript: ENST00000265198
  gene symbol: IPCEF1
  hgvsc: ENST00000265198.4:c.47G>A
  hgvsp: ENSP00000265198.4:p.Arg16His
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000394751
  ensembl transcript: ENST00000422970
  gene symbol: IPCEF1
  hgvsc: ENST00000422970.2:c.50G>A
  hgvsp: ENSP00000394751.2:p.Arg17His
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000430287
  ensembl transcript: ENST00000519344
  gene symbol: IPCEF1
  hgvsc: ENST00000519344.1:c.-38G>A
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000356189
  ensembl transcript: ENST00000367220
  gene symbol: IPCEF1
  hgvsc: ENST00000367220.4:c.50G>A
  hgvsp: ENSP00000356189.4:p.Arg17His
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000431004
  ensembl transcript: ENST00000520261
  gene symbol: IPCEF1
  hgvsc: ENST00000520261.1:c.47G>A
  hgvsp: ENSP00000431004.1:p.Arg16His
  variant of: http://identifiers.org/hgnc/21204
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10966
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9965
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2500
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5020
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1897
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7425
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13440
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3320
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7822
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3416
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13906
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5516
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg17His
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD

6-154568609-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 154568609
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 154568609
    reference: chr 6
allele count: 3
allele frequency: 2.475737769855417e-5
allele num: 121176
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000394751
  ensembl transcript: ENST00000422970
  gene symbol: IPCEF1
  hgvsc: ENST00000422970.2:c.50G>C
  hgvsp: ENSP00000394751.2:p.Arg17Pro
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000430287
  ensembl transcript: ENST00000519344
  gene symbol: IPCEF1
  hgvsc: ENST00000519344.1:c.-38G>C
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000356189
  ensembl transcript: ENST00000367220
  gene symbol: IPCEF1
  hgvsc: ENST00000367220.4:c.50G>C
  hgvsp: ENSP00000356189.4:p.Arg17Pro
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000074706
  ensembl transcript: ENST00000518162
  gene symbol: IPCEF1
  hgvsc: ENST00000518162.1:n.106G>C
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000265198
  ensembl transcript: ENST00000265198
  gene symbol: IPCEF1
  hgvsc: ENST00000265198.4:c.47G>C
  hgvsp: ENSP00000265198.4:p.Arg16Pro
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000431004
  ensembl transcript: ENST00000520261
  gene symbol: IPCEF1
  hgvsc: ENST00000520261.1:c.47G>C
  hgvsp: ENSP00000431004.1:p.Arg16Pro
  variant of: http://identifiers.org/hgnc/21204
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3320
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13440
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5020
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9965
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2500
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10966
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1897
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7425
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7822
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2412
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18768
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4697
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg17Pro
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQ

6-154568613-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 154568613
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 154568613
    reference: chr 6
allele count: 1
allele frequency: 8.253685270473266e-6
allele num: 121158
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000356189
  ensembl transcript: ENST00000367220
  gene symbol: IPCEF1
  hgvsc: ENST00000367220.4:c.46T>C
  hgvsp: ENST00000367220.4:c.46T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000431004
  ensembl transcript: ENST00000520261
  gene symbol: IPCEF1
  hgvsc: ENST00000520261.1:c.43T>C
  hgvsp: ENST00000520261.1:c.43T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000074706
  ensembl transcript: ENST00000518162
  gene symbol: IPCEF1
  hgvsc: ENST00000518162.1:n.102T>C
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000394751
  ensembl transcript: ENST00000422970
  gene symbol: IPCEF1
  hgvsc: ENST00000422970.2:c.46T>C
  hgvsp: ENST00000422970.2:c.46T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000265198
  ensembl transcript: ENST00000265198
  gene symbol: IPCEF1
  hgvsc: ENST00000265198.4:c.43T>C
  hgvsp: ENST00000265198.4:c.43T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000430287
  ensembl transcript: ENST00000519344
  gene symbol: IPCEF1
  hgvsc: ENST00000519344.1:c.-42T>C
  variant of: http://identifiers.org/hgnc/21204
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2482
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13439
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7423
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5018
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10956
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3320
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1897
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9965
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3860
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4696
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3412
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18760
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7816
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu16Leu
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

6-154568615-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 154568615
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 154568615
    reference: chr 6
allele count: 1
allele frequency: 8.255047961828658e-6
allele num: 121138
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000356189
  ensembl transcript: ENST00000367220
  gene symbol: IPCEF1
  hgvsc: ENST00000367220.4:c.44C>T
  hgvsp: ENSP00000356189.4:p.Pro15Leu
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000394751
  ensembl transcript: ENST00000422970
  gene symbol: IPCEF1
  hgvsc: ENST00000422970.2:c.44C>T
  hgvsp: ENSP00000394751.2:p.Pro15Leu
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000431004
  ensembl transcript: ENST00000520261
  gene symbol: IPCEF1
  hgvsc: ENST00000520261.1:c.41C>T
  hgvsp: ENSP00000431004.1:p.Pro14Leu
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000265198
  ensembl transcript: ENST00000265198
  gene symbol: IPCEF1
  hgvsc: ENST00000265198.4:c.41C>T
  hgvsp: ENSP00000265198.4:p.Pro14Leu
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000430287
  ensembl transcript: ENST00000519344
  gene symbol: IPCEF1
  hgvsc: ENST00000519344.1:c.-44C>T
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000074706
  ensembl transcript: ENST00000518162
  gene symbol: IPCEF1
  hgvsc: ENST00000518162.1:n.100C>T
  variant of: http://identifiers.org/hgnc/21204
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9962
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10950
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13433
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7423
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3320
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2461
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1897
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5018
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3410
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3860
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13852
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5510
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro15Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP

6-154568616-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 154568616
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 154568616
    reference: chr 6
allele count: 1
allele frequency: 8.256002113536541e-6
allele num: 121124
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000265198
  ensembl transcript: ENST00000265198
  gene symbol: IPCEF1
  hgvsc: ENST00000265198.4:c.40C>G
  hgvsp: ENSP00000265198.4:p.Pro14Ala
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000394751
  ensembl transcript: ENST00000422970
  gene symbol: IPCEF1
  hgvsc: ENST00000422970.2:c.43C>G
  hgvsp: ENSP00000394751.2:p.Pro15Ala
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000074706
  ensembl transcript: ENST00000518162
  gene symbol: IPCEF1
  hgvsc: ENST00000518162.1:n.99C>G
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000356189
  ensembl transcript: ENST00000367220
  gene symbol: IPCEF1
  hgvsc: ENST00000367220.4:c.43C>G
  hgvsp: ENSP00000356189.4:p.Pro15Ala
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000430287
  ensembl transcript: ENST00000519344
  gene symbol: IPCEF1
  hgvsc: ENST00000519344.1:c.-45C>G
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000431004
  ensembl transcript: ENST00000520261
  gene symbol: IPCEF1
  hgvsc: ENST00000520261.1:c.40C>G
  hgvsp: ENSP00000431004.1:p.Pro14Ala
  variant of: http://identifiers.org/hgnc/21204
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3318
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2457
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1898
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7425
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10937
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13434
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9958
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5018
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4694
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18757
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13826
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7810
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5508
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro15Ala
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

6-154568616-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 154568616
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 154568616
    reference: chr 6
allele count: 1
allele frequency: 8.256002113536541e-6
allele num: 121124
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000356189
  ensembl transcript: ENST00000367220
  gene symbol: IPCEF1
  hgvsc: ENST00000367220.4:c.43C>A
  hgvsp: ENSP00000356189.4:p.Pro15Thr
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000394751
  ensembl transcript: ENST00000422970
  gene symbol: IPCEF1
  hgvsc: ENST00000422970.2:c.43C>A
  hgvsp: ENSP00000394751.2:p.Pro15Thr
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000074706
  ensembl transcript: ENST00000518162
  gene symbol: IPCEF1
  hgvsc: ENST00000518162.1:n.99C>A
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000265198
  ensembl transcript: ENST00000265198
  gene symbol: IPCEF1
  hgvsc: ENST00000265198.4:c.40C>A
  hgvsp: ENSP00000265198.4:p.Pro14Thr
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000430287
  ensembl transcript: ENST00000519344
  gene symbol: IPCEF1
  hgvsc: ENST00000519344.1:c.-45C>A
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000431004
  ensembl transcript: ENST00000520261
  gene symbol: IPCEF1
  hgvsc: ENST00000520261.1:c.40C>A
  hgvsp: ENSP00000431004.1:p.Pro14Thr
  variant of: http://identifiers.org/hgnc/21204
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9958
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1898
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10937
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13434
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5018
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7425
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2457
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3318
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2408
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3409
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3860
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7810
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro15Thr
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

http://identifiers.org/exac.variant/6-154568617-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 154568617
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 154568617
    reference: chr 6
allele count: 1
allele frequency: 8.256138438929344e-6
allele num: 121122
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000265198
  ensembl transcript: ENST00000265198
  gene symbol: IPCEF1
  hgvsc: ENST00000265198.4:c.39T>G
  hgvsp: ENST00000265198.4:c.39T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000430287
  ensembl transcript: ENST00000519344
  gene symbol: IPCEF1
  hgvsc: ENST00000519344.1:c.-46T>G
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000074706
  ensembl transcript: ENST00000518162
  gene symbol: IPCEF1
  hgvsc: ENST00000518162.1:n.98T>G
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000356189
  ensembl transcript: ENST00000367220
  gene symbol: IPCEF1
  hgvsc: ENST00000367220.4:c.42T>G
  hgvsp: ENST00000367220.4:c.42T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000394751
  ensembl transcript: ENST00000422970
  gene symbol: IPCEF1
  hgvsc: ENST00000422970.2:c.42T>G
  hgvsp: ENST00000422970.2:c.42T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000431004
  ensembl transcript: ENST00000520261
  gene symbol: IPCEF1
  hgvsc: ENST00000520261.1:c.39T>G
  hgvsp: ENST00000520261.1:c.39T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21204
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9959
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2454
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13429
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7424
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3317
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10939
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5018
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1897
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7811
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3409
  bin: 7.25e1
  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: 3860
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5509
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
hgvs: c.39T>G
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: QD

6-154568618-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 154568618
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 154568618
    reference: chr 6
allele count: 1
allele frequency: 8.256274768824306e-6
allele num: 121120
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000431004
  ensembl transcript: ENST00000520261
  gene symbol: IPCEF1
  hgvsc: ENST00000520261.1:c.38T>A
  hgvsp: ENSP00000431004.1:p.Val13Asp
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000265198
  ensembl transcript: ENST00000265198
  gene symbol: IPCEF1
  hgvsc: ENST00000265198.4:c.38T>A
  hgvsp: ENSP00000265198.4:p.Val13Asp
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000356189
  ensembl transcript: ENST00000367220
  gene symbol: IPCEF1
  hgvsc: ENST00000367220.4:c.41T>A
  hgvsp: ENSP00000356189.4:p.Val14Asp
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000394751
  ensembl transcript: ENST00000422970
  gene symbol: IPCEF1
  hgvsc: ENST00000422970.2:c.41T>A
  hgvsp: ENSP00000394751.2:p.Val14Asp
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000430287
  ensembl transcript: ENST00000519344
  gene symbol: IPCEF1
  hgvsc: ENST00000519344.1:c.-47T>A
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000074706
  ensembl transcript: ENST00000518162
  gene symbol: IPCEF1
  hgvsc: ENST00000518162.1:n.97T>A
  variant of: http://identifiers.org/hgnc/21204
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9958
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2456
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3317
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10937
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7424
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5019
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1897
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13430
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3860
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18755
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5506
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13835
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Val14Asp
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

6-154568620-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 154568620
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 154568620
    reference: chr 6
allele count: 2
allele frequency: 1.65128222064433e-5
allele num: 121118
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000430287
  ensembl transcript: ENST00000519344
  gene symbol: IPCEF1
  hgvsc: ENST00000519344.1:c.-49G>A
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000431004
  ensembl transcript: ENST00000520261
  gene symbol: IPCEF1
  hgvsc: ENST00000520261.1:c.37-1G>A
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000356189
  ensembl transcript: ENST00000367220
  gene symbol: IPCEF1
  hgvsc: ENST00000367220.4:c.39G>A
  hgvsp: ENST00000367220.4:c.39G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000265198
  ensembl transcript: ENST00000265198
  gene symbol: IPCEF1
  hgvsc: ENST00000265198.4:c.37-1G>A
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000074706
  ensembl transcript: ENST00000518162
  gene symbol: IPCEF1
  hgvsc: ENST00000518162.1:n.95G>A
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000394751
  ensembl transcript: ENST00000422970
  gene symbol: IPCEF1
  hgvsc: ENST00000422970.2:c.39G>A
  hgvsp: ENST00000422970.2:c.39G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21204
canonical: false
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1897
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5017
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13426
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9957
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2439
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7425
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3316
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10942
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3406
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7809
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
hgvs: c.37-1G>A
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

6-154568639-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 154568639
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 154568639
    reference: chr 6
allele count: 3
allele frequency: 2.481553783542335e-5
allele num: 120892
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000265198
  ensembl transcript: ENST00000265198
  gene symbol: IPCEF1
  hgvsc: ENST00000265198.4:c.37-20C>T
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000430287
  ensembl transcript: ENST00000519344
  gene symbol: IPCEF1
  hgvsc: ENST00000519344.1:c.-68C>T
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000074706
  ensembl transcript: ENST00000518162
  gene symbol: IPCEF1
  hgvsc: ENST00000518162.1:n.76C>T
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000356189
  ensembl transcript: ENST00000367220
  gene symbol: IPCEF1
  hgvsc: ENST00000367220.4:c.37-17C>T
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000394751
  ensembl transcript: ENST00000422970
  gene symbol: IPCEF1
  hgvsc: ENST00000422970.2:c.37-17C>T
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000431004
  ensembl transcript: ENST00000520261
  gene symbol: IPCEF1
  hgvsc: ENST00000520261.1:c.37-20C>T
  variant of: http://identifiers.org/hgnc/21204
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13302
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2168
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1898
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10629
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3316
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7419
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9919
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5016
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3375
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7662
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3853
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18745
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2403
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13230
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

6-154568640-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 154568640
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 154568640
    reference: chr 6
allele count: 3
allele frequency: 2.48147167813658e-5
allele num: 120896
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000074706
  ensembl transcript: ENST00000518162
  gene symbol: IPCEF1
  hgvsc: ENST00000518162.1:n.75T>C
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000394751
  ensembl transcript: ENST00000422970
  gene symbol: IPCEF1
  hgvsc: ENST00000422970.2:c.37-18T>C
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000430287
  ensembl transcript: ENST00000519344
  gene symbol: IPCEF1
  hgvsc: ENST00000519344.1:c.-69T>C
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000431004
  ensembl transcript: ENST00000520261
  gene symbol: IPCEF1
  hgvsc: ENST00000520261.1:c.37-21T>C
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000356189
  ensembl transcript: ENST00000367220
  gene symbol: IPCEF1
  hgvsc: ENST00000367220.4:c.37-18T>C
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000265198
  ensembl transcript: ENST00000265198
  gene symbol: IPCEF1
  hgvsc: ENST00000265198.4:c.37-21T>C
  variant of: http://identifiers.org/hgnc/21204
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2176
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1896
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10629
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9917
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7417
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13301
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5016
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3314
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7663
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18745
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3853
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4679
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum

6-154568647-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 154568647
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 154568647
    reference: chr 6
allele count: 3
allele frequency: 2.482375136530632e-5
allele num: 120852
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000265198
  ensembl transcript: ENST00000265198
  gene symbol: IPCEF1
  hgvsc: ENST00000265198.4:c.37-28T>C
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000356189
  ensembl transcript: ENST00000367220
  gene symbol: IPCEF1
  hgvsc: ENST00000367220.4:c.37-25T>C
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000431004
  ensembl transcript: ENST00000520261
  gene symbol: IPCEF1
  hgvsc: ENST00000520261.1:c.37-28T>C
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000430287
  ensembl transcript: ENST00000519344
  gene symbol: IPCEF1
  hgvsc: ENST00000519344.1:c.-76T>C
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000074706
  ensembl transcript: ENST00000518162
  gene symbol: IPCEF1
  hgvsc: ENST00000518162.1:n.68T>C
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000394751
  ensembl transcript: ENST00000422970
  gene symbol: IPCEF1
  hgvsc: ENST00000422970.2:c.37-25T>C
  variant of: http://identifiers.org/hgnc/21204
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3314
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9891
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10411
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1896
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2047
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7406
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5016
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13171
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18743
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4673
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12808
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ

6-154568648-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 154568648
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 154568648
    reference: chr 6
allele count: 1
allele frequency: 8.276501357346223e-6
allele num: 120824
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000431004
  ensembl transcript: ENST00000520261
  gene symbol: IPCEF1
  hgvsc: ENST00000520261.1:c.37-29C>T
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000074706
  ensembl transcript: ENST00000518162
  gene symbol: IPCEF1
  hgvsc: ENST00000518162.1:n.67C>T
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000265198
  ensembl transcript: ENST00000265198
  gene symbol: IPCEF1
  hgvsc: ENST00000265198.4:c.37-29C>T
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000356189
  ensembl transcript: ENST00000367220
  gene symbol: IPCEF1
  hgvsc: ENST00000367220.4:c.37-26C>T
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000394751
  ensembl transcript: ENST00000422970
  gene symbol: IPCEF1
  hgvsc: ENST00000422970.2:c.37-26C>T
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000430287
  ensembl transcript: ENST00000519344
  gene symbol: IPCEF1
  hgvsc: ENST00000519344.1:c.-77C>T
  variant of: http://identifiers.org/hgnc/21204
canonical: false
consequence: 5' UTR
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7404
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5017
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1896
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13142
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10364
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2027
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3314
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9887
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7606
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3352
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3852
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP

6-154568649-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 154568649
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 154568649
    reference: chr 6
allele count: 1
allele frequency: 8.276227364518158e-6
allele num: 120828
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000431004
  ensembl transcript: ENST00000520261
  gene symbol: IPCEF1
  hgvsc: ENST00000520261.1:c.37-30T>C
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000265198
  ensembl transcript: ENST00000265198
  gene symbol: IPCEF1
  hgvsc: ENST00000265198.4:c.37-30T>C
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000356189
  ensembl transcript: ENST00000367220
  gene symbol: IPCEF1
  hgvsc: ENST00000367220.4:c.37-27T>C
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000430287
  ensembl transcript: ENST00000519344
  gene symbol: IPCEF1
  hgvsc: ENST00000519344.1:c.-78T>C
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000074706
  ensembl transcript: ENST00000518162
  gene symbol: IPCEF1
  hgvsc: ENST00000518162.1:n.66T>C
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000394751
  ensembl transcript: ENST00000422970
  gene symbol: IPCEF1
  hgvsc: ENST00000422970.2:c.37-27T>C
  variant of: http://identifiers.org/hgnc/21204
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3314
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7403
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10308
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1896
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5016
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9879
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13115
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2400
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3851
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5448
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12637
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18740
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7593
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum

6-154568655-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 154568655
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 154568655
    reference: chr 6
allele count: 1
allele frequency: 8.281436332317477e-6
allele num: 120752
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000394751
  ensembl transcript: ENST00000422970
  gene symbol: IPCEF1
  hgvsc: ENST00000422970.2:c.37-33A>T
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000430287
  ensembl transcript: ENST00000519344
  gene symbol: IPCEF1
  hgvsc: ENST00000519344.1:c.-84A>T
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000356189
  ensembl transcript: ENST00000367220
  gene symbol: IPCEF1
  hgvsc: ENST00000367220.4:c.37-33A>T
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000074706
  ensembl transcript: ENST00000518162
  gene symbol: IPCEF1
  hgvsc: ENST00000518162.1:n.60A>T
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000265198
  ensembl transcript: ENST00000265198
  gene symbol: IPCEF1
  hgvsc: ENST00000265198.4:c.37-36A>T
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000431004
  ensembl transcript: ENST00000520261
  gene symbol: IPCEF1
  hgvsc: ENST00000520261.1:c.37-36A>T
  variant of: http://identifiers.org/hgnc/21204
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9708
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5013
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12739
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3313
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1522
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1896
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9817
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7400
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5427
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11488
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 878
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2395
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 723
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
reference allele: T
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum

6-154568656-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 154568656
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 154568656
    reference: chr 6
allele count: 1
allele frequency: 8.281710670156027e-6
allele num: 120748
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000430287
  ensembl transcript: ENST00000519344
  gene symbol: IPCEF1
  hgvsc: ENST00000519344.1:c.-85A>T
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000431004
  ensembl transcript: ENST00000520261
  gene symbol: IPCEF1
  hgvsc: ENST00000520261.1:c.37-37A>T
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000394751
  ensembl transcript: ENST00000422970
  gene symbol: IPCEF1
  hgvsc: ENST00000422970.2:c.37-34A>T
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000074706
  ensembl transcript: ENST00000518162
  gene symbol: IPCEF1
  hgvsc: ENST00000518162.1:n.59A>T
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000265198
  ensembl transcript: ENST00000265198
  gene symbol: IPCEF1
  hgvsc: ENST00000265198.4:c.37-37A>T
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000356189
  ensembl transcript: ENST00000367220
  gene symbol: IPCEF1
  hgvsc: ENST00000367220.4:c.37-34A>T
  variant of: http://identifiers.org/hgnc/21204
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1896
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9813
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9717
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3313
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5013
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12716
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1936
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7397
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2395
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7381
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18735
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5424
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4657
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11597
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 879
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS

6-154568660-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 154568660
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 154568660
    reference: chr 6
allele count: 1
allele frequency: 8.290224167661493e-6
allele num: 120624
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000430287
  ensembl transcript: ENST00000519344
  gene symbol: IPCEF1
  hgvsc: ENST00000519344.1:c.-89C>G
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000431004
  ensembl transcript: ENST00000520261
  gene symbol: IPCEF1
  hgvsc: ENST00000520261.1:c.37-41C>G
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000265198
  ensembl transcript: ENST00000265198
  gene symbol: IPCEF1
  hgvsc: ENST00000265198.4:c.37-41C>G
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000074706
  ensembl transcript: ENST00000518162
  gene symbol: IPCEF1
  hgvsc: ENST00000518162.1:n.55C>G
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000394751
  ensembl transcript: ENST00000422970
  gene symbol: IPCEF1
  hgvsc: ENST00000422970.2:c.37-38C>G
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000356189
  ensembl transcript: ENST00000367220
  gene symbol: IPCEF1
  hgvsc: ENST00000367220.4:c.37-38C>G
  variant of: http://identifiers.org/hgnc/21204
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5007
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9739
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2156
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7390
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9121
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2385
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3313
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1896
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12275
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7118
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 926
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 928
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3841
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2390
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

6-154568661-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 154568661
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 154568661
    reference: chr 6
allele count: 4
allele frequency: 3.316144650229643e-5
allele num: 120622
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000265198
  ensembl transcript: ENST00000265198
  gene symbol: IPCEF1
  hgvsc: ENST00000265198.4:c.37-42T>C
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000430287
  ensembl transcript: ENST00000519344
  gene symbol: IPCEF1
  hgvsc: ENST00000519344.1:c.-90T>C
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000356189
  ensembl transcript: ENST00000367220
  gene symbol: IPCEF1
  hgvsc: ENST00000367220.4:c.37-39T>C
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000394751
  ensembl transcript: ENST00000422970
  gene symbol: IPCEF1
  hgvsc: ENST00000422970.2:c.37-39T>C
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000074706
  ensembl transcript: ENST00000518162
  gene symbol: IPCEF1
  hgvsc: ENST00000518162.1:n.54T>C
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000431004
  ensembl transcript: ENST00000520261
  gene symbol: IPCEF1
  hgvsc: ENST00000520261.1:c.37-42T>C
  variant of: http://identifiers.org/hgnc/21204
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1896
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9692
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3313
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2725
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8713
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2532
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7384
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5008
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12005
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 913
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5377
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6974
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2392
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1011
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4628
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum

6-154568668-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 154568668
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 154568668
    reference: chr 6
allele count: 1
allele frequency: 8.319467554076538e-6
allele num: 120200
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000430287
  ensembl transcript: ENST00000519344
  gene symbol: IPCEF1
  hgvsc: ENST00000519344.1:c.-97A>T
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000431004
  ensembl transcript: ENST00000520261
  gene symbol: IPCEF1
  hgvsc: ENST00000520261.1:c.37-49A>T
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000356189
  ensembl transcript: ENST00000367220
  gene symbol: IPCEF1
  hgvsc: ENST00000367220.4:c.37-46A>T
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000394751
  ensembl transcript: ENST00000422970
  gene symbol: IPCEF1
  hgvsc: ENST00000422970.2:c.37-46A>T
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000074706
  ensembl transcript: ENST00000518162
  gene symbol: IPCEF1
  hgvsc: ENST00000518162.1:n.47A>T
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000265198
  ensembl transcript: ENST00000265198
  gene symbol: IPCEF1
  hgvsc: ENST00000265198.4:c.37-49A>T
  variant of: http://identifiers.org/hgnc/21204
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9245
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1897
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2689
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5458
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3312
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 7304
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 370
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1099
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 92
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2360
  bin: 8.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18717
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1146
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2795
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genotype quality: GenotypeQuality
  all individuals: 6109
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3008
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1622
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: African
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

6-154587007-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 154587007
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 154587007
    reference: chr 6
allele count: 2
allele frequency: 1.662234042553192e-5
allele num: 120320
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000394751
  ensembl transcript: ENST00000422970
  gene symbol: IPCEF1
  hgvsc: ENST00000422970.2:c.36+39T>A
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000356189
  ensembl transcript: ENST00000367220
  gene symbol: IPCEF1
  hgvsc: ENST00000367220.4:c.36+39T>A
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000265198
  ensembl transcript: ENST00000265198
  gene symbol: IPCEF1
  hgvsc: ENST00000265198.4:c.36+39T>A
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000431004
  ensembl transcript: ENST00000520261
  gene symbol: IPCEF1
  hgvsc: ENST00000520261.1:c.36+39T>A
  variant of: http://identifiers.org/hgnc/21204
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8900
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6739
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3062
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10009
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4689
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3493
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11991
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6065
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14205
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2638
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20168
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3577
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum

6-154587009-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 154587009
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 154587009
    reference: chr 6
allele count: 1
allele frequency: 8.30813199960121e-6
allele num: 120364
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000265198
  ensembl transcript: ENST00000265198
  gene symbol: IPCEF1
  hgvsc: ENST00000265198.4:c.36+37T>C
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000394751
  ensembl transcript: ENST00000422970
  gene symbol: IPCEF1
  hgvsc: ENST00000422970.2:c.36+37T>C
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000356189
  ensembl transcript: ENST00000367220
  gene symbol: IPCEF1
  hgvsc: ENST00000367220.4:c.36+37T>C
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000431004
  ensembl transcript: ENST00000520261
  gene symbol: IPCEF1
  hgvsc: ENST00000520261.1:c.36+37T>C
  variant of: http://identifiers.org/hgnc/21204
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10055
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11994
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4690
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3062
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8901
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3675
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6739
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2076
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2633
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20165
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4250
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14486
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4561
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3578
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

6-154587025-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 154587025
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 154587025
    reference: chr 6
allele count: 1
allele frequency: 8.290224167661493e-6
allele num: 120624
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000265198
  ensembl transcript: ENST00000265198
  gene symbol: IPCEF1
  hgvsc: ENST00000265198.4:c.36+21C>T
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000356189
  ensembl transcript: ENST00000367220
  gene symbol: IPCEF1
  hgvsc: ENST00000367220.4:c.36+21C>T
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000431004
  ensembl transcript: ENST00000520261
  gene symbol: IPCEF1
  hgvsc: ENST00000520261.1:c.36+21C>T
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000394751
  ensembl transcript: ENST00000422970
  gene symbol: IPCEF1
  hgvsc: ENST00000422970.2:c.36+21C>T
  variant of: http://identifiers.org/hgnc/21204
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12024
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4903
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4690
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8903
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2076
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6738
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10396
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3062
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20163
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16049
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4248
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3580
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 4562
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2646
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP

6-154587026-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 154587026
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 154587026
    reference: chr 6
allele count: 1
allele frequency: 8.289124668435012e-6
allele num: 120640
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000265198
  ensembl transcript: ENST00000265198
  gene symbol: IPCEF1
  hgvsc: ENST00000265198.4:c.36+20C>T
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000356189
  ensembl transcript: ENST00000367220
  gene symbol: IPCEF1
  hgvsc: ENST00000367220.4:c.36+20C>T
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000394751
  ensembl transcript: ENST00000422970
  gene symbol: IPCEF1
  hgvsc: ENST00000422970.2:c.36+20C>T
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000431004
  ensembl transcript: ENST00000520261
  gene symbol: IPCEF1
  hgvsc: ENST00000520261.1:c.36+20C>T
  variant of: http://identifiers.org/hgnc/21204
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4940
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10416
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12025
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3062
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8905
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2075
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4690
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6740
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6136
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 4247
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16064
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
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genotype quality: GenotypeQuality
  all individuals: 60
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4560
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genotype quality: GenotypeQuality
  all individuals: 149
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2648
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: Latino
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum

http://identifiers.org/exac.variant/6-154587032-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 154587032
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 154587031
    reference: chr 6
allele count: 1
allele frequency: 8.279516476237788e-6
allele num: 120780
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000394751
  ensembl transcript: ENST00000422970
  gene symbol: IPCEF1
  hgvsc: ENST00000422970.2:c.36+13delT
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000265198
  ensembl transcript: ENST00000265198
  gene symbol: IPCEF1
  hgvsc: ENST00000265198.4:c.36+13delT
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000431004
  ensembl transcript: ENST00000520261
  gene symbol: IPCEF1
  hgvsc: ENST00000520261.1:c.36+13delT
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000356189
  ensembl transcript: ENST00000367220
  gene symbol: IPCEF1
  hgvsc: ENST00000367220.4:c.36+13delT
  variant of: http://identifiers.org/hgnc/21204
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8909
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4690
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12071
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2075
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5105
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10551
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3062
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6740
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4562
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3580
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6148
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2652
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4250
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16417
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20162
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: CA
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

6-154587036-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 154587036
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 154587036
    reference: chr 6
allele count: 1
allele frequency: 8.274720728175424e-6
allele num: 120850
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000265198
  ensembl transcript: ENST00000265198
  gene symbol: IPCEF1
  hgvsc: ENST00000265198.4:c.36+10C>T
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000356189
  ensembl transcript: ENST00000367220
  gene symbol: IPCEF1
  hgvsc: ENST00000367220.4:c.36+10C>T
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000394751
  ensembl transcript: ENST00000422970
  gene symbol: IPCEF1
  hgvsc: ENST00000422970.2:c.36+10C>T
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000431004
  ensembl transcript: ENST00000520261
  gene symbol: IPCEF1
  hgvsc: ENST00000520261.1:c.36+10C>T
  variant of: http://identifiers.org/hgnc/21204
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5229
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3062
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6739
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4691
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10594
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2074
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8908
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12056
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3580
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2655
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16612
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4568
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20161
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2132
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4249
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

6-154587038-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 154587038
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 154587038
    reference: chr 6
allele count: 1
allele frequency: 8.271845945141119e-6
allele num: 120892
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000431004
  ensembl transcript: ENST00000520261
  gene symbol: IPCEF1
  hgvsc: ENST00000520261.1:c.36+8T>A
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000394751
  ensembl transcript: ENST00000422970
  gene symbol: IPCEF1
  hgvsc: ENST00000422970.2:c.36+8T>A
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000265198
  ensembl transcript: ENST00000265198
  gene symbol: IPCEF1
  hgvsc: ENST00000265198.4:c.36+8T>A
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000356189
  ensembl transcript: ENST00000367220
  gene symbol: IPCEF1
  hgvsc: ENST00000367220.4:c.36+8T>A
  variant of: http://identifiers.org/hgnc/21204
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10609
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4690
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6740
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1970
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12055
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5265
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8907
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3062
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2073
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4249
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20162
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16678
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6157
  bin: 6.75e1
  variant carriers: 0
hgvs: c.36+8T>A
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

6-154587056-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 154587056
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 154587056
    reference: chr 6
allele count: 1
allele frequency: 8.260093834665961e-6
allele num: 121064
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000265198
  ensembl transcript: ENST00000265198
  gene symbol: IPCEF1
  hgvsc: ENST00000265198.4:c.26G>A
  hgvsp: ENSP00000265198.4:p.Gly9Asp
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000356189
  ensembl transcript: ENST00000367220
  gene symbol: IPCEF1
  hgvsc: ENST00000367220.4:c.26G>A
  hgvsp: ENSP00000356189.4:p.Gly9Asp
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000394751
  ensembl transcript: ENST00000422970
  gene symbol: IPCEF1
  hgvsc: ENST00000422970.2:c.26G>A
  hgvsp: ENSP00000394751.2:p.Gly9Asp
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000431004
  ensembl transcript: ENST00000520261
  gene symbol: IPCEF1
  hgvsc: ENST00000520261.1:c.26G>A
  hgvsp: ENSP00000431004.1:p.Gly9Asp
  variant of: http://identifiers.org/hgnc/21204
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10701
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4689
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8906
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12061
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2073
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3062
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5369
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6742
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4561
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6176
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2648
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2133
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4251
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3578
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly9Asp
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: QD

6-154587062-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 154587062
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 154587062
    reference: chr 6
allele count: 1
allele frequency: 8.258183860205463e-6
allele num: 121092
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000265198
  ensembl transcript: ENST00000265198
  gene symbol: IPCEF1
  hgvsc: ENST00000265198.4:c.20T>C
  hgvsp: ENSP00000265198.4:p.Ile7Thr
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000394751
  ensembl transcript: ENST00000422970
  gene symbol: IPCEF1
  hgvsc: ENST00000422970.2:c.20T>C
  hgvsp: ENSP00000394751.2:p.Ile7Thr
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000431004
  ensembl transcript: ENST00000520261
  gene symbol: IPCEF1
  hgvsc: ENST00000520261.1:c.20T>C
  hgvsp: ENSP00000431004.1:p.Ile7Thr
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000356189
  ensembl transcript: ENST00000367220
  gene symbol: IPCEF1
  hgvsc: ENST00000367220.4:c.20T>C
  hgvsp: ENSP00000356189.4:p.Ile7Thr
  variant of: http://identifiers.org/hgnc/21204
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4691
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10709
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5385
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8903
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2072
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12060
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6740
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3062
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2130
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6177
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3578
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20160
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4251
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16913
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ile7Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

6-154587068-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 154587068
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 154587068
    reference: chr 6
allele count: 2
allele frequency: 1.651609493451368e-5
allele num: 121094
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000394751
  ensembl transcript: ENST00000422970
  gene symbol: IPCEF1
  hgvsc: ENST00000422970.2:c.14T>C
  hgvsp: ENSP00000394751.2:p.Met5Thr
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000356189
  ensembl transcript: ENST00000367220
  gene symbol: IPCEF1
  hgvsc: ENST00000367220.4:c.14T>C
  hgvsp: ENSP00000356189.4:p.Met5Thr
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000265198
  ensembl transcript: ENST00000265198
  gene symbol: IPCEF1
  hgvsc: ENST00000265198.4:c.14T>C
  hgvsp: ENSP00000265198.4:p.Met5Thr
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000431004
  ensembl transcript: ENST00000520261
  gene symbol: IPCEF1
  hgvsc: ENST00000520261.1:c.14T>C
  hgvsp: ENSP00000431004.1:p.Met5Thr
  variant of: http://identifiers.org/hgnc/21204
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6741
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12060
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5364
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3062
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8904
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10729
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4691
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2073
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2130
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2647
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4249
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6175
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20160
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Met5Thr
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
reference allele: A
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ

6-154587113-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 154587113
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 154587113
    reference: chr 6
allele count: 1
allele frequency: 8.307717869901138e-6
allele num: 120370
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000265198
  ensembl transcript: ENST00000265198
  gene symbol: IPCEF1
  hgvsc: ENST00000265198.4:c.-17-15T>A
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000356189
  ensembl transcript: ENST00000367220
  gene symbol: IPCEF1
  hgvsc: ENST00000367220.4:c.-17-15T>A
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000431004
  ensembl transcript: ENST00000520261
  gene symbol: IPCEF1
  hgvsc: ENST00000520261.1:c.-17-15T>A
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000394751
  ensembl transcript: ENST00000422970
  gene symbol: IPCEF1
  hgvsc: ENST00000422970.2:c.-17-15T>A
  variant of: http://identifiers.org/hgnc/21204
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3059
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4684
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3870
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8887
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2071
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11981
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6723
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10428
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1966
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3571
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2128
  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 2621
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1102
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15107
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20148
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: Other
reference allele: A
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

6-154587128-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 154587128
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 154587128
    reference: chr 6
allele count: 9
allele frequency: 7.502625919071675e-5
allele num: 119958
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000394751
  ensembl transcript: ENST00000422970
  gene symbol: IPCEF1
  hgvsc: ENST00000422970.2:c.-17-30A>G
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000431004
  ensembl transcript: ENST00000520261
  gene symbol: IPCEF1
  hgvsc: ENST00000520261.1:c.-17-30A>G
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000265198
  ensembl transcript: ENST00000265198
  gene symbol: IPCEF1
  hgvsc: ENST00000265198.4:c.-17-30A>G
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000356189
  ensembl transcript: ENST00000367220
  gene symbol: IPCEF1
  hgvsc: ENST00000367220.4:c.-17-30A>G
  variant of: http://identifiers.org/hgnc/21204
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6690
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1827
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8758
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11497
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9478
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2592
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1964
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4668
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2558
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2071
  bin: 9.75e1
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genotype depth: GenotypeDepth
  all individuals: 3054
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 20136
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 834
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 12368
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1776
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: DP

6-154587132-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 154587132
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 154587132
    reference: chr 6
allele count: 1
allele frequency: 8.350730688935283e-6
allele num: 119750
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000431004
  ensembl transcript: ENST00000520261
  gene symbol: IPCEF1
  hgvsc: ENST00000520261.1:c.-17-34T>C
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000356189
  ensembl transcript: ENST00000367220
  gene symbol: IPCEF1
  hgvsc: ENST00000367220.4:c.-17-34T>C
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000394751
  ensembl transcript: ENST00000422970
  gene symbol: IPCEF1
  hgvsc: ENST00000422970.2:c.-17-34T>C
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000265198
  ensembl transcript: ENST00000265198
  gene symbol: IPCEF1
  hgvsc: ENST00000265198.4:c.-17-34T>C
  variant of: http://identifiers.org/hgnc/21204
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6676
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2647
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3053
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2727
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2414
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11214
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4659
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8995
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2071
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1412
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2549
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4189
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1849
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4481
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11353
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1149
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 836
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP

6-154587135-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 154587135
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 154587135
    reference: chr 6
allele count: 1
allele frequency: 8.360924383799873e-6
allele num: 119604
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000431004
  ensembl transcript: ENST00000520261
  gene symbol: IPCEF1
  hgvsc: ENST00000520261.1:c.-17-37A>G
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000394751
  ensembl transcript: ENST00000422970
  gene symbol: IPCEF1
  hgvsc: ENST00000422970.2:c.-17-37A>G
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000356189
  ensembl transcript: ENST00000367220
  gene symbol: IPCEF1
  hgvsc: ENST00000367220.4:c.-17-37A>G
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000265198
  ensembl transcript: ENST00000265198
  gene symbol: IPCEF1
  hgvsc: ENST00000265198.4:c.-17-37A>G
  variant of: http://identifiers.org/hgnc/21204
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8515
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3049
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1958
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8624
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4654
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6656
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3460
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10914
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2379
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2777
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2071
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2110
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1613
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1876
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20106
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1435
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10397
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 903
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4465
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3551
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5503
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

6-154587142-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 154587142
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 154587142
    reference: chr 6
allele count: 8
allele frequency: 6.716142247892811e-5
allele num: 119116
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000394751
  ensembl transcript: ENST00000422970
  gene symbol: IPCEF1
  hgvsc: ENST00000422970.2:c.-17-44C>T
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000431004
  ensembl transcript: ENST00000520261
  gene symbol: IPCEF1
  hgvsc: ENST00000520261.1:c.-17-44C>T
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000265198
  ensembl transcript: ENST00000265198
  gene symbol: IPCEF1
  hgvsc: ENST00000265198.4:c.-17-44C>T
  variant of: http://identifiers.org/hgnc/21204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074706
  ensembl protein: ENSP00000356189
  ensembl transcript: ENST00000367220
  gene symbol: IPCEF1
  hgvsc: ENST00000367220.4:c.-17-44C>T
  variant of: http://identifiers.org/hgnc/21204
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2718
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3046
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1956
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7387
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6629
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9825
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4627
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4070
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8427
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4137
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2071
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7895
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2100
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2439
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1843
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1974
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4976
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20095
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 1717
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4151
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 968
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1061
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: DP

6-154727448-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 154727448
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 154727448
    reference: chr 6
allele count: 1
allele frequency: 1.778410101369376e-5
allele num: 56230
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000153721
  ensembl protein: ENSP00000418975
  ensembl transcript: ENST00000479339
  gene symbol: CNKSR3
  hgvsc: ENST00000479339.1:c.*40A>T
  variant of: http://identifiers.org/hgnc/23034
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000153721
  ensembl protein: ENSP00000414185
  ensembl transcript: ENST00000433165
  gene symbol: CNKSR3
  hgvsc: ENST00000433165.2:c.*40A>T
  variant of: http://identifiers.org/hgnc/23034
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000153721
  ensembl protein: ENSP00000475915
  ensembl transcript: ENST00000607772
  gene symbol: CNKSR3
  hgvsc: ENST00000607772.1:c.*40A>T
  variant of: http://identifiers.org/hgnc/23034
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17522
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4766
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24692
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3002
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6947
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 951
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6919
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
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genotype quality: GenotypeQuality
  all individuals: 177
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3460
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 690
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1199
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD

6-154727452-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 154727452
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 154727452
    reference: chr 6
allele count: 1
allele frequency: 1.758149020710995e-5
allele num: 56878
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000153721
  ensembl protein: ENSP00000418975
  ensembl transcript: ENST00000479339
  gene symbol: CNKSR3
  hgvsc: ENST00000479339.1:c.*36C>T
  variant of: http://identifiers.org/hgnc/23034
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000153721
  ensembl protein: ENSP00000475915
  ensembl transcript: ENST00000607772
  gene symbol: CNKSR3
  hgvsc: ENST00000607772.1:c.*36C>T
  variant of: http://identifiers.org/hgnc/23034
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000153721
  ensembl protein: ENSP00000414185
  ensembl transcript: ENST00000433165
  gene symbol: CNKSR3
  hgvsc: ENST00000433165.2:c.*36C>T
  variant of: http://identifiers.org/hgnc/23034
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17507
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24890
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1784
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4626
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3945
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5952
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

6-154727455-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 154727455
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 154727455
    reference: chr 6
allele count: 1
allele frequency: 1.731661702569786e-5
allele num: 57748
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000153721
  ensembl protein: ENSP00000418975
  ensembl transcript: ENST00000479339
  gene symbol: CNKSR3
  hgvsc: ENST00000479339.1:c.*33C>T
  variant of: http://identifiers.org/hgnc/23034
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000153721
  ensembl protein: ENSP00000414185
  ensembl transcript: ENST00000433165
  gene symbol: CNKSR3
  hgvsc: ENST00000433165.2:c.*33C>T
  variant of: http://identifiers.org/hgnc/23034
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000153721
  ensembl protein: ENSP00000475915
  ensembl transcript: ENST00000607772
  gene symbol: CNKSR3
  hgvsc: ENST00000607772.1:c.*33C>T
  variant of: http://identifiers.org/hgnc/23034
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4356
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1832
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5827
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17453
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4094
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25151
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3819
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1119
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5949
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1000
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2263
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6929
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23633
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5124
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 725
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2353
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4771
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP

6-154727456-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 154727456
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 154727456
    reference: chr 6
allele count: 23
allele frequency: 3.970857359897794e-4
allele num: 57922
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000153721
  ensembl protein: ENSP00000475915
  ensembl transcript: ENST00000607772
  gene symbol: CNKSR3
  hgvsc: ENST00000607772.1:c.*32C>T
  variant of: http://identifiers.org/hgnc/23034
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000153721
  ensembl protein: ENSP00000414185
  ensembl transcript: ENST00000433165
  gene symbol: CNKSR3
  hgvsc: ENST00000433165.2:c.*32C>T
  variant of: http://identifiers.org/hgnc/23034
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000153721
  ensembl protein: ENSP00000418975
  ensembl transcript: ENST00000479339
  gene symbol: CNKSR3
  hgvsc: ENST00000479339.1:c.*32C>T
  variant of: http://identifiers.org/hgnc/23034
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5653
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1839
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25184
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17497
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4379
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4167
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 9.75e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3800
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4994
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2205
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5948
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23359
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1129
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2732
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1011
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6929
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4613
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ

6-154727465-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 154727465
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 154727464
    reference: chr 6
allele count: 1
allele frequency: 1.628611445881242e-5
allele num: 61402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000153721
  ensembl protein: ENSP00000418975
  ensembl transcript: ENST00000479339
  gene symbol: CNKSR3
  hgvsc: ENST00000479339.1:c.*22delC
  variant of: http://identifiers.org/hgnc/23034
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000153721
  ensembl protein: ENSP00000414185
  ensembl transcript: ENST00000433165
  gene symbol: CNKSR3
  hgvsc: ENST00000433165.2:c.*22delC
  variant of: http://identifiers.org/hgnc/23034
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000153721
  ensembl protein: ENSP00000475915
  ensembl transcript: ENST00000607772
  gene symbol: CNKSR3
  hgvsc: ENST00000607772.1:c.*22delC
  variant of: http://identifiers.org/hgnc/23034
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7001
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3766
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2176
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25599
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16461
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3775
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 949
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25670
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7414
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 783
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1144
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1583
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3603
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 841
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6457
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3320
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5887
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: Latino
population: East Asian
population: European (Finnish)
reference allele: AG
site quality: DP
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

6-154727473-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 154727473
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 154727473
    reference: chr 6
allele count: 0
allele frequency: 0.0e0
allele num: 65906
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000153721
  ensembl protein: ENSP00000418975
  ensembl transcript: ENST00000479339
  gene symbol: CNKSR3
  hgvsc: ENST00000479339.1:c.*15A>G
  variant of: http://identifiers.org/hgnc/23034
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000153721
  ensembl protein: ENSP00000475915
  ensembl transcript: ENST00000607772
  gene symbol: CNKSR3
  hgvsc: ENST00000607772.1:c.*15A>G
  variant of: http://identifiers.org/hgnc/23034
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000153721
  ensembl protein: ENSP00000414185
  ensembl transcript: ENST00000433165
  gene symbol: CNKSR3
  hgvsc: ENST00000433165.2:c.*15A>G
  variant of: http://identifiers.org/hgnc/23034
canonical: true
consequence: 3' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2425
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3315
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24853
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14998
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2551
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10649
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
reference allele: T

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000137074
ensembl protein: ENSP00000417634
ensembl transcript: ENST00000494649
gene symbol: APTX
hgvsc: ENST00000494649.1:c.*719+42G>C
variant of: http://identifiers.org/hgnc/15984

GenotypeDepth
all individuals: 6300
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4438
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 915
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8050
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 513
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1123
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 270
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11494
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1540
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15749
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 3002
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1396
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 682
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 833
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1067
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1034
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1229
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 473
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 370
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 197
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 895
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4964
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1134
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 318
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3151
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20546
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1422
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 453
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 395
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5194
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2571
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4859
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1629
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2420
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4232
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 379
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 455
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5192
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7694
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15830
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9748
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.667389201987528e-5
allele num: 59974
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6372
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

DP
type: SiteQuality
SIO_000300: 1.659733e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.68e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.5e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.733e0

QD
type: SiteQuality
SIO_000300: 2.063e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -8.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.61e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000137074
ensembl protein: ENSP00000369147
ensembl transcript: ENST00000379819
gene symbol: APTX
hgvsc: ENST00000379819.1:c.916+34C>G
variant of: http://identifiers.org/hgnc/15984

GenotypeDepth
all individuals: 370
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 197
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21801
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 304
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4364
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1034
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 270
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8787
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7185
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 915
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3320
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1232
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 473
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 833
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1124
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1567
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3764
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1067
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1396
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 682
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4016
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3351
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4863
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5569
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1276
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4230
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 388
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27605
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 913
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1456
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 526
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 463
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2205
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1694
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1252
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7764
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10460
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9816
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60442
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6388
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.290890790135883e-5
allele num: 15896
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.719773e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.06e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.26e-1

MQ
type: SiteQuality
SIO_000300: 5.901e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

QD
type: SiteQuality
SIO_000300: 1.236e1

MQRankSum
type: SiteQuality
SIO_000300: -2.65e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000137074
ensembl protein: ENSP00000369147
ensembl transcript: ENST00000379819
gene symbol: APTX
hgvsc: ENST00000379819.1:c.916+27T>C
variant of: http://identifiers.org/hgnc/15984

GenotypeDepth
all individuals: 1067
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1126
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 184
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3804
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 370
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1779
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 26854
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 833
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1591
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 915
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5431
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1034
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3578
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 197
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7869
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 473
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 682
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 270
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1396
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2522
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4194
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6018
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1544
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 524
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 366
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 552
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1715
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1750
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4234
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 82
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 469
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 944
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1523
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33272
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9908
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15978
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10652
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.268391679350583e-4
allele num: 7884
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61550
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6422
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 2.007e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.04e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.711e0

DP
type: SiteQuality
SIO_000300: 1.777504e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.39e0

MQRankSum
type: SiteQuality
SIO_000300: 4.41e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

VQSLOD
type: SiteQuality
SIO_000300: -8.689e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.18e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000137074
ensembl protein: ENSP00000369147
ensembl transcript: ENST00000379819
gene symbol: APTX
hgvsc: ENST00000379819.1:c.916+20T>C
variant of: http://identifiers.org/hgnc/15984

GenotypeDepth
all individuals: 682
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29682
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 473
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 915
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1634
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2869
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1396
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1127
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3936
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 270
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3179
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8727
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 924
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 370
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1245
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 127
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 197
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1034
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1067
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 833
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6377
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 878
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3183
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 952
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36946
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 296
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4235
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 470
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 403
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1573
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1440
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 390
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1790
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 987
bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16098
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.589926227423048e-5
allele num: 62896
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10888
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 4.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

QD
type: SiteQuality
SIO_000300: 1.129e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.82e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.62e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.29e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.724e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.08e0

DP
type: SiteQuality
SIO_000300: 1.827707e6

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000137074
ensembl protein: ENSP00000417804
ensembl transcript: ENST00000472896
gene symbol: APTX
hgvsc: ENST00000472896.1:c.*377+17G>C
variant of: http://identifiers.org/hgnc/15984

GenotypeDepth
all individuals: 30750
bin: 2.25e1
variant carriers: 2

GenotypeDepth
all individuals: 640
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9168
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1034
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 834
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 473
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1067
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1131
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 370
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 106
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1255
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2317
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1666
bin: 3.75e1
variant carriers: 2

GenotypeDepth
all individuals: 2257
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 915
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 197
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 682
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1396
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 270
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4160
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 38
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1004
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 470
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 585
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4240
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 952
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2587
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 739
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1576
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6466
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38679
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 405
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1794
bin: 7.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6478
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 5.45950864422202e-4
allele num: 10990
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.573465084809768e-5
allele num: 63554
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8234
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16164
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.62e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.572e0

MQRankSum
type: SiteQuality
SIO_000300: -2.91e-1

QD
type: SiteQuality
SIO_000300: 1.26e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.91e-1

FS
type: SiteQuality
SIO_000300: 3.024e0

DP
type: SiteQuality
SIO_000300: 1.851863e6

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000137074
ensembl protein: ENSP00000417804
ensembl transcript: ENST00000472896
gene symbol: APTX
hgvsc: ENST00000472896.1:c.*377+16T>C
variant of: http://identifiers.org/hgnc/15984

GenotypeDepth
all individuals: 531
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 682
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1068
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 834
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 197
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 101
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 9291
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2113
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1918
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 473
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4198
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1669
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 371
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1249
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 31245
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1133
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 270
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1396
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 915
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1034
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 473
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1596
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 632
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2335
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39516
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1812
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 405
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6589
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 836
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 478
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4236
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 957
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10102
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11040
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8266
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6494
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.564847270906359e-5
allele num: 63904
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16194
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.05e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 7.507e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.05e0

QD
type: SiteQuality
SIO_000300: 1.628e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.908e0

DP
type: SiteQuality
SIO_000300: 1.859765e6

MQRankSum
type: SiteQuality
SIO_000300: 1.02e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.068e0

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000137074
ensembl protein: ENSP00000417634
ensembl transcript: ENST00000494649
gene symbol: APTX
hgvsc: ENST00000494649.1:c.*719+14C>T
variant of: http://identifiers.org/hgnc/15984

GenotypeDepth
all individuals: 1259
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 480
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 88
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 834
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1606
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 916
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 197
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 682
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1036
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4344
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1690
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1844
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1136
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1068
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 270
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1396
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9537
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 31462
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 370
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 473
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2032
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 412
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39799
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 403
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 715
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 468
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6615
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 955
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 551
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4235
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1812
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1607
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8318
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11082
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6504
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16220
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.557195801800118e-5
allele num: 64218
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.173e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.04e0

DP
type: SiteQuality
SIO_000300: 1.870625e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.515e1

VQSLOD
type: SiteQuality
SIO_000300: -3.359e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.417e0

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: splice_region_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000137074
ensembl protein: ENSP00000417804
ensembl transcript: ENST00000472896
gene symbol: APTX
hgvsc: ENST00000472896.1:c.*376A>G
variant of: http://identifiers.org/hgnc/15984

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: splice_region_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000137074
ensembl protein: ENSP00000417634
ensembl transcript: ENST00000494649
gene symbol: APTX
hgvsc: ENST00000494649.1:c.*718A>G
variant of: http://identifiers.org/hgnc/15984

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: splice_region_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000137074
ensembl protein: ENSP00000418144
ensembl transcript: ENST00000485479
gene symbol: APTX
hgvsc: ENST00000485479.1:c.*603A>G
variant of: http://identifiers.org/hgnc/15984

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: splice_region_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000137074
ensembl protein: ENSP00000419623
ensembl transcript: ENST00000495360
gene symbol: APTX
hgvsc: ENST00000495360.1:c.*603A>G
variant of: http://identifiers.org/hgnc/15984

GenotypeDepth
all individuals: 834
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1768
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 916
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10209
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 40
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 683
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1074
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1143
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 164
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 479
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4866
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 734
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 197
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 32780
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 473
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1036
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 270
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1270
bin: 4.25e1
variant carriers: 2

GenotypeDepth
all individuals: 1396
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 370
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 967
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6938
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4251
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 38
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 787
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42436
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1830
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1656
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 475
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 411
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 5.25e1
variant carriers: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.0790273556231e-5
allele num: 65800
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16404
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 8.46e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.05e-1

QD
type: SiteQuality
SIO_000300: 1.397e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.11e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.911027e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

FS
type: SiteQuality
SIO_000300: 5.532e0

MQRankSum
type: SiteQuality
SIO_000300: 5.02e-1

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000137074
ensembl protein: ENSP00000418311
ensembl transcript: ENST00000460940
gene symbol: APTX
hgvsc: ENST00000460940.1:c.*486T>A
variant of: http://identifiers.org/hgnc/15984

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000137074
ensembl protein: ENSP00000419430
ensembl transcript: ENST00000465003
gene symbol: APTX
hgvsc: ENST00000465003.1:c.*495T>A
variant of: http://identifiers.org/hgnc/15984

GenotypeDepth
all individuals: 473
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 683
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1074
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 270
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1146
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 542
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 834
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1270
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 318
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1781
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4974
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 197
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1036
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 135
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 32906
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 370
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1396
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10347
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 916
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42880
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 410
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 591
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1829
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4246
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 34
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6986
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1649
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 475
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 973
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16434
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8568
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10320
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.782715615668365e-5
allele num: 11386
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66066
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.917788e6

FS
type: SiteQuality
SIO_000300: 3.136e0

MQRankSum
type: SiteQuality
SIO_000300: -5.78e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.53e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.76e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.096e0

QD
type: SiteQuality
SIO_000300: 1.221e1

Annotation
canonical: true
consequence: missense_variant
ensembl gene: ENSG00000137074
ensembl protein: ENSP00000369141
ensembl transcript: ENST00000379813
gene symbol: APTX
hgvsc: ENST00000379813.3:c.865G>A
hgvsp: ENSP00000369141.3:p.Glu289Lys
variant of: http://identifiers.org/hgnc/15984

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000137074
ensembl protein: ENSP00000417634
ensembl transcript: ENST00000494649
gene symbol: APTX
hgvsc: ENST00000494649.1:c.*710G>A
variant of: http://identifiers.org/hgnc/15984

GenotypeDepth
all individuals: 197
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1396
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 916
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 683
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 125
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 278
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 476
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 370
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 32921
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 270
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1272
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 473
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5012
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 34
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1147
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10398
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 834
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1036
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1791
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1074
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1650
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 968
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 408
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7001
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 519
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42972
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1826
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 71
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 473
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4245
bin: 9.75e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 1.937233630375823e-4
allele num: 10324
num of homozygotes: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16436
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11398
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66142
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 3.071e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.920117e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.580000000000001e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.89e0

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000137074
ensembl protein: ENSP00000420071
ensembl transcript: ENST00000479656
gene symbol: APTX
hgvsc: ENST00000479656.1:c.*699A>T
variant of: http://identifiers.org/hgnc/15984

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000137074
ensembl protein: ENSP00000417750
ensembl transcript: ENST00000474658
gene symbol: APTX
hgvsc: ENST00000474658.2:c.*297A>T
variant of: http://identifiers.org/hgnc/15984

GenotypeDepth
all individuals: 1037
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 372
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 916
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1076
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1150
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 270
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 834
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1287
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5145
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1826
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 168
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 264
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 197
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 87
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 684
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1396
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 473
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 32918
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10594
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1651
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 407
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1825
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 964
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7070
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43391
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 475
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4249
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 68
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11478
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10358
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505343971097396e-5
allele num: 66430
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16472
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 2.34e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.415e0

MQRankSum
type: SiteQuality
SIO_000300: 8.35e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.55e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.604e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.0e-1

DP
type: SiteQuality
SIO_000300: 1.928515e6

GenotypeQuality
all individuals: 38
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3873
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13373
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4716
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18799
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2411
bin: 8.75e1
variant carriers: 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: 11492
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66682
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.433e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.02e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.52e0

MQRankSum
type: SiteQuality
SIO_000300: 2.32e0

VQSLOD
type: SiteQuality
SIO_000300: -7.529e-1

QD
type: SiteQuality
SIO_000300: 1.153e1

MQ
type: SiteQuality
SIO_000300: 5.585e1

DP
type: SiteQuality
SIO_000300: 2.518438e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
all individuals: 9
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18791
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 29
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2407
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4716
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 2.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 5
allele frequency: 3.032140691328078e-4
allele num: 16490
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66682
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: 8632
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 2.518716e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.16e0

MQRankSum
type: SiteQuality
SIO_000300: 4.7e-1

MQ
type: SiteQuality
SIO_000300: 5.977e1

VQSLOD
type: SiteQuality
SIO_000300: 1.16e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.68e-1

FS
type: SiteQuality
SIO_000300: 4.298e0

QD
type: SiteQuality
SIO_000300: 1.225e1

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2409
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5527
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7815
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13456
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11494
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499565126113427e-5
allele num: 66686
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: 6610
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.600000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.84e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

QD
type: SiteQuality
SIO_000300: 1.282e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.987e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.52e-1

DP
type: SiteQuality
SIO_000300: 2.518871e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.36e0

GenotypeQuality
all individuals: 67
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4703
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13456
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3426
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18787
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7815
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499565126113427e-5
allele num: 66686
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
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: 11494
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 5.600000000000001e-1

FS
type: SiteQuality
SIO_000300: 2.987e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.08e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.36e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.84e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.282e1

DP
type: SiteQuality
SIO_000300: 2.518871e6

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000137074
ensembl protein: ENSP00000418311
ensembl transcript: ENST00000460940
gene symbol: APTX
hgvsc: ENST00000460940.1:c.*464C>G
variant of: http://identifiers.org/hgnc/15984

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000137074
ensembl protein: ENSP00000419289
ensembl transcript: ENST00000482687
gene symbol: APTX
hgvsc: ENST00000482687.1:c.*40C>G
variant of: http://identifiers.org/hgnc/15984

GenotypeDepth
all individuals: 126
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1396
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 372
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 270
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10677
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1294
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 69
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1153
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1076
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 207
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 834
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1849
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5202
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 916
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 32863
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 684
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1038
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 473
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 197
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 963
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 406
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7068
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 473
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1648
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4250
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 30
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1819
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43533
bin: 6.25e1
variant carriers: 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: 10366
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11486
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16476
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503578516870151e-5
allele num: 66508
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.41e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -9.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 5.97e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.65e0

VQSLOD
type: SiteQuality
SIO_000300: -2.94e-1

DP
type: SiteQuality
SIO_000300: 1.931602e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.78e0

QD
type: SiteQuality
SIO_000300: 1.522e1

Annotation
canonical: false
clinical significance: pathogenic
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000137074
ensembl protein: ENSP00000418311
ensembl transcript: ENST00000460940
gene symbol: APTX
hgvsc: ENST00000460940.1:c.*455G>C
variant of: http://identifiers.org/hgnc/15984

Annotation
canonical: false
clinical significance: pathogenic
consequence: missense_variant
ensembl gene: ENSG00000137074
ensembl protein: ENSP00000369147
ensembl transcript: ENST00000379819
gene symbol: APTX
hgvsc: ENST00000379819.1:c.879G>C
hgvsp: ENSP00000369147.1:p.Trp293Cys
variant of: http://identifiers.org/hgnc/15984

Annotation
canonical: false
clinical significance: pathogenic
consequence: 3_prime_UTR_variant
ensembl gene: ENSG00000137074
ensembl protein: ENSP00000400806
ensembl transcript: ENST00000436040
gene symbol: APTX
hgvsc: ENST00000436040.2:c.*31G>C
variant of: http://identifiers.org/hgnc/15984

Annotation
canonical: false
clinical significance: pathogenic
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000137074
ensembl protein: ENSP00000419289
ensembl transcript: ENST00000482687
gene symbol: APTX
hgvsc: ENST00000482687.1:c.*31G>C
variant of: http://identifiers.org/hgnc/15984

GenotypeDepth
all individuals: 32864
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1299
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1039
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 916
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 197
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 44
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1398
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 372
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10721
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 836
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1078
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1855
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 109
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 473
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 154
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5234
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1156
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 684
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 270
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1646
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 472
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43705
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 21
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7068
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1817
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 405
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 957
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4258
bin: 9.75e1
variant carriers: 1

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: 904
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10374
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502133028901039e-5
allele num: 66572
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.958e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.76e-1

FS
type: SiteQuality
SIO_000300: 1.79e0

MQRankSum
type: SiteQuality
SIO_000300: 2.76e-1

DP
type: SiteQuality
SIO_000300: 1.934008e6

VQSLOD
type: SiteQuality
SIO_000300: 1.77e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.671e0

QD
type: SiteQuality
SIO_000300: 1.064e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.33e-1

Annotation
canonical: false
clinical significance: pathogenic
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000137074
ensembl protein: ENSP00000418144
ensembl transcript: ENST00000485479
gene symbol: APTX
hgvsc: ENST00000485479.1:c.*567G>A
variant of: http://identifiers.org/hgnc/15984

Annotation
canonical: false
clinical significance: pathogenic
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000137074
ensembl protein: ENSP00000418311
ensembl transcript: ENST00000460940
gene symbol: APTX
hgvsc: ENST00000460940.1:c.*455G>A
variant of: http://identifiers.org/hgnc/15984

Annotation
canonical: false
clinical significance: pathogenic
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000137074
ensembl protein: ENSP00000417634
ensembl transcript: ENST00000494649
gene symbol: APTX
hgvsc: ENST00000494649.1:c.*682G>A
variant of: http://identifiers.org/hgnc/15984

Annotation
canonical: false
clinical significance: pathogenic
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000137074
ensembl protein: ENSP00000419289
ensembl transcript: ENST00000482687
gene symbol: APTX
hgvsc: ENST00000482687.1:c.*31G>A
variant of: http://identifiers.org/hgnc/15984

GenotypeDepth
all individuals: 5234
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 109
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1299
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 154
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1039
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1156
bin: 4.75e1
variant carriers: 3

GenotypeDepth
all individuals: 197
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1398
bin: 9.75e1
variant carriers: 3

GenotypeDepth
all individuals: 10721
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 372
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 916
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 270
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1078
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 684
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 836
bin: 6.75e1
variant carriers: 2

GenotypeDepth
all individuals: 44
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 473
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1855
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 32864
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 17
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4258
bin: 9.75e1
variant carriers: 13

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1817
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1646
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 405
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 957
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43705
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 472
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7068
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10374
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 13
allele frequency: 1.952772937571351e-4
allele num: 66572
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.76e-1

DP
type: SiteQuality
SIO_000300: 1.934008e6

QD
type: SiteQuality
SIO_000300: 1.064e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.76e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.77e0

MQ
type: SiteQuality
SIO_000300: 5.958e1

FS
type: SiteQuality
SIO_000300: 1.79e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.671e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.33e-1

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000137074
ensembl protein: ENSP00000419289
ensembl transcript: ENST00000482687
gene symbol: APTX
hgvsc: ENST00000482687.1:c.*29T>C
variant of: http://identifiers.org/hgnc/15984

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000137074
ensembl protein: ENSP00000420071
ensembl transcript: ENST00000479656
gene symbol: APTX
hgvsc: ENST00000479656.1:c.*680T>C
variant of: http://identifiers.org/hgnc/15984

GenotypeDepth
all individuals: 144
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 10724
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 41
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1301
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1038
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 32865
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 111
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 834
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 372
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1398
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 683
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 197
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 473
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1858
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1157
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 917
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 270
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1080
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5236
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43733
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 960
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1820
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4247
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 405
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1644
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 471
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7077
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 25
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 2.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501907422426482e-5
allele num: 66582
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.078e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.149999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.934108e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 7.000000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.48e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.62e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.243e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

Annotation
canonical: true
consequence: synonymous_variant
ensembl gene: ENSG00000137074
ensembl protein: ENSP00000369141
ensembl transcript: ENST00000379813
gene symbol: APTX
hgvsc: ENST00000379813.3:c.834T>C
hgvsp: ENST00000379813.3:c.834T>C(p.%3D)
variant of: http://identifiers.org/hgnc/15984

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000137074
ensembl protein: ENSP00000419430
ensembl transcript: ENST00000465003
gene symbol: APTX
hgvsc: ENST00000465003.1:c.*461T>C
variant of: http://identifiers.org/hgnc/15984

GenotypeDepth
all individuals: 142
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1398
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 45
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1080
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5241
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 683
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 372
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10723
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 474
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 197
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1856
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1157
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 834
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 917
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 32857
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 114
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1301
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1038
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 270
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 471
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1644
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 405
bin: 8.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 43729
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4247
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1819
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 15
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 961
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7081
bin: 6.75e1
variant carriers: 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: 2
allele frequency: 3.003724618526973e-5
allele num: 66584
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11510
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.01e-1

DP
type: SiteQuality
SIO_000300: 1.934271e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.41e0

FS
type: SiteQuality
SIO_000300: 2.424e0

MQRankSum
type: SiteQuality
SIO_000300: 1.27e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.64e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.609e0

MQ
type: SiteQuality
SIO_000300: 6.001e1

QD
type: SiteQuality
SIO_000300: 1.417e1

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000137074
ensembl protein: ENSP00000417804
ensembl transcript: ENST00000472896
gene symbol: APTX
hgvsc: ENST00000472896.1:c.*335C>T
variant of: http://identifiers.org/hgnc/15984

Annotation
canonical: false
consequence: 3_prime_UTR_variant
ensembl gene: ENSG00000137074
ensembl protein: ENSP00000400806
ensembl transcript: ENST00000436040
gene symbol: APTX
hgvsc: ENST00000436040.2:c.*26C>T
variant of: http://identifiers.org/hgnc/15984

GenotypeDepth
all individuals: 1158
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 833
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5245
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 197
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1081
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 372
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 917
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1038
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 685
bin: 7.25e1
variant carriers: 2

GenotypeDepth
all individuals: 1855
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10720
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 473
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 32815
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 56
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 143
bin: 7.5e0
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6602
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66582
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
allele count: 3
allele frequency: 2.605523710265763e-4
allele num: 11514
num of homozygotes: 0

Other
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num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.934159e6

MQRankSum
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SIO_000300: 5.7e-2

VQSLOD
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ReadPosRankSum
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SIO_000300: 6.63e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 6.32e-1

QD
type: SiteQuality
SIO_000300: 1.034e1

FS
type: SiteQuality
SIO_000300: 2.85e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.66e-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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variant carriers: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 2.999040307101727e-5
allele num: 66688
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10392
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

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: 11494
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 5.454e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.87e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
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SIO_000300: -1.947e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.9e-2

DP
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SIO_000300: 2.519168e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.41e-1

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 9.399999999999999e-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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variant carriers: 0

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

Other
type: Population
allele count: 0
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: 8630
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11494
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66686
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.92e0

QD
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
type: SiteQuality
SIO_000300: 1.17e-1

DP
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.464e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 13
allele frequency: 1.949493131785736e-4
allele num: 66684
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.697164724299878e-5
allele num: 11498
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.353e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.26e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.937e1

DP
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InbreedingCoeff
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SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
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VQSLOD
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ReadPosRankSum
type: SiteQuality
SIO_000300: 6.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.58e-1

GenotypeQuality
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variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11508
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.158480074142725e-4
allele num: 8632
num of homozygotes: 0

African
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: 908
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66686
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -6.627e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.76e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.08e-1

InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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DP
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MQ
type: SiteQuality
SIO_000300: 4.914e1

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 8.785e0

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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bin: 8.75e1
variant carriers: 0

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

Latino
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: 1.499655079331754e-5
allele num: 66682
num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
allele num: 16504
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -1.82e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 7.498e0

BaseQRankSum
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InbreedingCoeff
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SIO_000300: -1.0e-4

MQ
type: SiteQuality
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ClippingRankSum
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QD
type: SiteQuality
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DP
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ReadPosRankSum
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.49947518368571e-5
allele num: 66690
num of homozygotes: 0

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

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

South Asian
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num of homozygotes: 0

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

FS
type: SiteQuality
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InbreedingCoeff
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QD
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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VQSLOD
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DP
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MQ
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
type: Population
allele count: 1
allele frequency: 1.51285930408472e-4
allele num: 6610
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66682
num of homozygotes: 0

Latino
type: Population
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allele frequency: 0.0e0
allele num: 11504
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Other
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South Asian
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allele num: 16504
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East Asian
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allele count: 0
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num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 9.69e-1

MQ
type: SiteQuality
SIO_000300: 5.954e1

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66680
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South Asian
type: Population
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allele frequency: 6.05913717886573e-5
allele num: 16504
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Other
type: Population
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11506
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African
type: Population
allele count: 1
allele frequency: 9.645061728395061e-5
allele num: 10368
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.225e0

FS
type: SiteQuality
SIO_000300: 2.606e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.94e1

MQRankSum
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ReadPosRankSum
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ClippingRankSum
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QD
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DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 17
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GenotypeQuality
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bin: 9.25e1
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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: 11508
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 frequency: 1.499790029395885e-5
allele num: 66676
num of homozygotes: 0

European (Finnish)
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African
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East Asian
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
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MQRankSum
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MQ
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FS
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SIO_000300: 3.38e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.49e-1

QD
type: SiteQuality
SIO_000300: 1.292e1

VQSLOD
type: SiteQuality
SIO_000300: 1.62e0

GenotypeQuality
all individuals: 173
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18768
bin: 9.75e1
variant carriers: 4

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4697
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2412
bin: 8.75e1
variant carriers: 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: 6610
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66672
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.658103148541626e-5
allele num: 10354
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.818181818181818e-4
allele num: 16500
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -8.58e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.8e-1

DP
type: SiteQuality
SIO_000300: 2.51996e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.91e0

QD
type: SiteQuality
SIO_000300: 1.281e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

FS
type: SiteQuality
SIO_000300: 1.142e0

MQ
type: SiteQuality
SIO_000300: 5.936e1

VQSLOD
type: SiteQuality
SIO_000300: 1.82e0

GenotypeQuality
all individuals: 12
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3416
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13906
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3860
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5516
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.738223535546671e-4
allele num: 11506
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.658103148541626e-5
allele num: 10354
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: 66672
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.91e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

FS
type: SiteQuality
SIO_000300: 1.142e0

VQSLOD
type: SiteQuality
SIO_000300: 1.82e0

MQRankSum
type: SiteQuality
SIO_000300: 6.8e-1

DP
type: SiteQuality
SIO_000300: 2.51996e6

QD
type: SiteQuality
SIO_000300: 1.281e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.936e1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5511
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13898
bin: 6.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11506
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10352
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66660
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.64e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.5e-1

FS
type: SiteQuality
SIO_000300: 7.8e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.13e-1

MQ
type: SiteQuality
SIO_000300: 5.98e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.073e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.07e-1

DP
type: SiteQuality
SIO_000300: 2.519218e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.533e0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4695
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2408
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18757
bin: 9.75e1
variant carriers: 1

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: 10340
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: 908
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66650
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.059871530723549e-5
allele num: 16502
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.088e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.889e0

MQRankSum
type: SiteQuality
SIO_000300: -6.01e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.22e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.179999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.81e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 2.128e0

DP
type: SiteQuality
SIO_000300: 2.51864e6

GenotypeQuality
all individuals: 42
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3860
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2408
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 29
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3409
bin: 7.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10340
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11498
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500510173458976e-5
allele num: 66644
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.902e0

DP
type: SiteQuality
SIO_000300: 2.518313e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 8.49e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.86e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.79e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.806e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.688e0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13826
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5508
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4694
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10340
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
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: 8624
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66644
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11498
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -9.806e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.86e0

QD
type: SiteQuality
SIO_000300: 8.49e0

FS
type: SiteQuality
SIO_000300: 3.902e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 2.518313e6

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.688e0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 16
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18755
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4695
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2408
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13824
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11502
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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500555205426008e-5
allele num: 66642
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10336
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.55e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.518096e6

MQRankSum
type: SiteQuality
SIO_000300: -6.73e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.275e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.97e-1

FS
type: SiteQuality
SIO_000300: 9.42e0

QD
type: SiteQuality
SIO_000300: 1.534e1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 2.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
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: 1
allele frequency: 6.06060606060606e-5
allele num: 16500
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10336
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66642
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.112e0

MQRankSum
type: SiteQuality
SIO_000300: 1.17e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

DP
type: SiteQuality
SIO_000300: 2.518071e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.46e0

QD
type: SiteQuality
SIO_000300: 1.346e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2407
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3859
bin: 9.25e1
variant carriers: 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: 8624
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.001020346917952e-5
allele num: 66644
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10332
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.1386e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.328e0

DP
type: SiteQuality
SIO_000300: 2.517836e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.44e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.59e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.356e0

InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.186e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.11e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4680
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variant carriers: 0

GenotypeQuality
all individuals: 5476
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 572
bin: 2.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.721437292865864e-5
allele num: 11466
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66532
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: 6610
num of homozygotes: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.323420074349442e-4
allele num: 8608
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.715e0

MQRankSum
type: SiteQuality
SIO_000300: 2.36e-1

BaseQRankSum
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.977e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.17e-1

QD
type: SiteQuality
SIO_000300: 1.798e1

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: 13283
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2403
bin: 8.75e1
variant carriers: 0

Latino
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allele count: 1
allele frequency: 8.721437292865864e-5
allele num: 11466
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African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 2.323420074349442e-4
allele num: 8608
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 908
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66534
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e0

DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.977e1

InbreedingCoeff
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BaseQRankSum
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MQRankSum
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SIO_000300: 2.91e-1

QD
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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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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Latino
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allele frequency: 0.0e0
allele num: 11456
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Other
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6610
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African
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allele count: 1
allele frequency: 9.731413001167769e-5
allele num: 10276
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.006433768264085e-5
allele num: 66524
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 4.6984e1

ReadPosRankSum
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BaseQRankSum
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MQRankSum
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QD
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MQ
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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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66510
num of homozygotes: 0

Latino
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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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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10264
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.067961165048543e-5
allele num: 16480
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.558e0

InbreedingCoeff
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SIO_000300: 5.0e-4

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQ
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VQSLOD
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ReadPosRankSum
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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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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10264
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.503442884204829e-5
allele num: 66514
num of homozygotes: 0

DP
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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QD
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
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BaseQRankSum
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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variant carriers: 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: 6610
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.504211793020457e-5
allele num: 66480
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8594
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11448
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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QD
type: SiteQuality
SIO_000300: 1.219e1

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.861e1

DP
type: SiteQuality
SIO_000300: 2.48204e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.009e0

MQRankSum
type: SiteQuality
SIO_000300: -2.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.32e-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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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10236
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66486
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South Asian
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Latino
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allele frequency: 0.0e0
allele num: 11448
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.163602513381429e-4
allele num: 8594
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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QD
type: SiteQuality
SIO_000300: 1.302e1

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

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 9.9e-2

DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
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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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10212
num of homozygotes: 0

Other
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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
allele num: 6610
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.505253334136135e-5
allele num: 66434
num of homozygotes: 0

South Asian
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InbreedingCoeff
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FS
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
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MQ
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ReadPosRankSum
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ClippingRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Other
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African
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

Latino
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 6.021375884389583e-5
allele num: 66430
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VQSLOD
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DP
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BaseQRankSum
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ClippingRankSum
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QD
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InbreedingCoeff
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FS
type: SiteQuality
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MQ
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ReadPosRankSum
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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allele num: 66280
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Latino
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South Asian
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Other
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European (Finnish)
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African
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VQSLOD
type: SiteQuality
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DP
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InbreedingCoeff
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ReadPosRankSum
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MQ
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FS
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BaseQRankSum
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MQRankSum
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QD
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ClippingRankSum
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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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African
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European (Finnish)
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East Asian
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European (Non-Finnish)
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Other
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FS
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VQSLOD
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InbreedingCoeff
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MQRankSum
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DP
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BaseQRankSum
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ReadPosRankSum
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QD
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MQ
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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African
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South Asian
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Latino
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European (Finnish)
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East Asian
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Other
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FS
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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DP
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VQSLOD
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ReadPosRankSum
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QD
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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Other
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15978
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503352476021528e-5
allele num: 66518
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.683e0

FS
type: SiteQuality
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ReadPosRankSum
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.615e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

MQRankSum
type: SiteQuality
SIO_000300: -5.0e-2

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.508884e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

South Asian
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allele count: 1
allele frequency: 6.255473539346929e-5
allele num: 15986
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: 0
allele frequency: 0.0e0
allele num: 66526
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 4.76e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

DP
type: SiteQuality
SIO_000300: 2.50951e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.59e-1

FS
type: SiteQuality
SIO_000300: 4.822e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.569e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 2.02e0

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 2.1e-1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16082
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502223290469895e-5
allele num: 66568
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.09e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.987e1

VQSLOD
type: SiteQuality
SIO_000300: 1.69e0

FS
type: SiteQuality
SIO_000300: 6.051e0

MQRankSum
type: SiteQuality
SIO_000300: 2.16e-1

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.24e1

DP
type: SiteQuality
SIO_000300: 2.514381e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16126
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50177209106746e-5
allele num: 66588
num of homozygotes: 0

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

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

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

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

DP
type: SiteQuality
SIO_000300: 2.515896e6

VQSLOD
type: SiteQuality
SIO_000300: -7.459e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.44e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.143e0

QD
type: SiteQuality
SIO_000300: 1.074e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.32e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.04e0

FS
type: SiteQuality
SIO_000300: 5.26e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.626492106276473e-5
allele num: 10388
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66600
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: 11578
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16154
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.516361e6

MQRankSum
type: SiteQuality
SIO_000300: 5.92e-1

QD
type: SiteQuality
SIO_000300: 5.57e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

VQSLOD
type: SiteQuality
SIO_000300: -3.924e-1

MQ
type: SiteQuality
SIO_000300: 5.575e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.014e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.61e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.06e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 20161
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GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16294
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5008254539997e-5
allele num: 66630
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -2.0e-2

FS
type: SiteQuality
SIO_000300: 9.795999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.013e0

MQ
type: SiteQuality
SIO_000300: 5.873e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.513e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.116e0

DP
type: SiteQuality
SIO_000300: 2.519335e6

QD
type: SiteQuality
SIO_000300: 1.162e1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500690317546071e-5
allele num: 66636
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16316
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.371e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.31e-1

DP
type: SiteQuality
SIO_000300: 2.519438e6

MQRankSum
type: SiteQuality
SIO_000300: 1.24e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.79e-1

FS
type: SiteQuality
SIO_000300: 5.936e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.02e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 16926
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16318
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.001290554938624e-5
allele num: 66638
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 2.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.962e1

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: 66422
num of homozygotes: 0

European (Finnish)
type: Population
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: 8636
num of homozygotes: 0

South Asian
type: Population
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allele frequency: 6.294058408862034e-5
allele num: 15888
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.4e-2

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: 10318
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15676
num of homozygotes: 0

European (Non-Finnish)
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allele count: 9
allele frequency: 1.357834706255092e-4
allele num: 66282
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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variant carriers: 1

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: 8620
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66210
num of homozygotes: 0

South Asian
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allele count: 0
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allele num: 15554
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10312
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.653513326410523e-5
allele num: 11556
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
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QD
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
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allele frequency: 0.0e0
allele num: 888
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

Latino
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African
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South Asian
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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: 1.511395925276585e-5
allele num: 66164
num of homozygotes: 0

DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
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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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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 4402
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Other
type: Population
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allele frequency: 0.0e0
allele num: 884
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 7.578972897592918e-5
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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African
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South Asian
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East Asian
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allele num: 8582
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.38e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 8.999999999999999e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.398e1

VQSLOD
type: SiteQuality
SIO_000300: 6.57e-1

DP
type: SiteQuality
SIO_000300: 2.409212e6

GenotypeQuality
all individuals: 1232
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3360
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3420
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 464
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5326
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3044
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.074085459575776e-5
allele num: 32530
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.644e0

DP
type: SiteQuality
SIO_000300: 6.74572e5

ClippingRankSum
type: SiteQuality
SIO_000300: -6.08e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.6e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.52e-2

MQ
type: SiteQuality
SIO_000300: 5.788e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -4.56e-1

QD
type: SiteQuality
SIO_000300: 1.124e1

GenotypeQuality
all individuals: 439
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3072
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.932551319648094e-4
allele num: 3410
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32822
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3496
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5364
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8242
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 472
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.43e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.004e0

QD
type: SiteQuality
SIO_000300: 1.253e1

VQSLOD
type: SiteQuality
SIO_000300: 2.89e-1

FS
type: SiteQuality
SIO_000300: 1.345e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.021e0

DP
type: SiteQuality
SIO_000300: 6.83194e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e0

GenotypeQuality
all individuals: 175
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 480
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3118
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.005710850616171e-5
allele num: 33270
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5412
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3482
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3586
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8400
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.52e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.7e-2

QD
type: SiteQuality
SIO_000300: 9.789999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: 2.97e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.62e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.666e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.25e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 6.9564e5

GenotypeQuality
all individuals: 724
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 2.780867630700779e-4
allele num: 3596
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8430
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3492
num of homozygotes: 0

African
type: Population
allele count: 22
allele frequency: 4.069552349241583e-3
allele num: 5406
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3120
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 33402
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 476
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.782e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.17e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.3e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.08e0

QD
type: SiteQuality
SIO_000300: 1.244e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.2e-2

DP
type: SiteQuality
SIO_000300: 6.98019e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 697
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 35130
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9000
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.75377060680463e-4
allele num: 5702
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3992
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3744
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3332
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 7.46224e5

QD
type: SiteQuality
SIO_000300: 1.564e1

MQ
type: SiteQuality
SIO_000300: 6.036e1

MQRankSum
type: SiteQuality
SIO_000300: -1.9e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.075e0

VQSLOD
type: SiteQuality
SIO_000300: 1.41e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.2e-3

FS
type: SiteQuality
SIO_000300: 6.935e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.468e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.161e0