3-160083785-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160083785
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160083785
    reference: chr 3
allele count: 323
allele frequency: 2.671806240280581e-3
allele num: 120892
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420646
  ensembl transcript: ENST00000496589
  gene symbol: IFT80
  hgvsc: ENST00000496589.1:c.138+46G>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.1062+46G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000478460
  gene symbol: IFT80
  hgvsc: ENST00000478460.1:n.257-8419G>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000419458
  ensembl transcript: ENST00000475677
  gene symbol: IFT80
  hgvsc: ENST00000475677.1:c.138+46G>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000312778
  ensembl transcript: ENST00000326448
  gene symbol: IFT80
  hgvsc: ENST00000326448.7:c.549+46G>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000487943
  gene symbol: IFT80
  hgvsc: ENST00000487943.1:n.1769-8419G>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418602
  ensembl transcript: ENST00000465537
  gene symbol: IFT80
  hgvsc: ENST00000465537.1:c.138+46G>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418196
  ensembl transcript: ENST00000483465
  gene symbol: IFT80
  hgvsc: ENST00000483465.1:c.138+46G>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000472773
  gene symbol: IFT80
  hgvsc: ENST00000472773.1:n.564-8419G>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420260
  ensembl transcript: ENST00000484963
  gene symbol: IFT80
  hgvsc: ENST00000484963.1:c.154+96G>A
  variant of: http://identifiers.org/hgnc/29262
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6474
  bin: 4.75e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 8.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 7566
  bin: 3.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 5160
  bin: 5.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 4991
  bin: 2.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 2177
  bin: 6.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7416
  bin: 4.25e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 3092
  bin: 6.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 7.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 7616
  bin: 3.25e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 1914
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4016
  bin: 5.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3699
  bin: 9.75e1
  variant carriers: 42
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 6
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/3-160083786-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160083786
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160083786
    reference: chr 3
allele count: 1
allele frequency: 8.270204108637402e-6
allele num: 120916
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.1062+45T>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000419458
  ensembl transcript: ENST00000475677
  gene symbol: IFT80
  hgvsc: ENST00000475677.1:c.138+45T>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000487943
  gene symbol: IFT80
  hgvsc: ENST00000487943.1:n.1769-8420T>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000312778
  ensembl transcript: ENST00000326448
  gene symbol: IFT80
  hgvsc: ENST00000326448.7:c.549+45T>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000478460
  gene symbol: IFT80
  hgvsc: ENST00000478460.1:n.257-8420T>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420646
  ensembl transcript: ENST00000496589
  gene symbol: IFT80
  hgvsc: ENST00000496589.1:c.138+45T>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000472773
  gene symbol: IFT80
  hgvsc: ENST00000472773.1:n.564-8420T>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420260
  ensembl transcript: ENST00000484963
  gene symbol: IFT80
  hgvsc: ENST00000484963.1:c.154+95T>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418196
  ensembl transcript: ENST00000483465
  gene symbol: IFT80
  hgvsc: ENST00000483465.1:c.138+45T>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418602
  ensembl transcript: ENST00000465537
  gene symbol: IFT80
  hgvsc: ENST00000465537.1:c.138+45T>G
  variant of: http://identifiers.org/hgnc/29262
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5025
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7583
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4012
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1991
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6472
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2167
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7412
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7639
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5151
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3676
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3092
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34076
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

3-160083798-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160083798
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160083798
    reference: chr 3
allele count: 2
allele frequency: 1.653575857792476e-5
allele num: 120950
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000472773
  gene symbol: IFT80
  hgvsc: ENST00000472773.1:n.564-8432G>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.1062+33G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420260
  ensembl transcript: ENST00000484963
  gene symbol: IFT80
  hgvsc: ENST00000484963.1:c.154+83G>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000478460
  gene symbol: IFT80
  hgvsc: ENST00000478460.1:n.257-8432G>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418196
  ensembl transcript: ENST00000483465
  gene symbol: IFT80
  hgvsc: ENST00000483465.1:c.138+33G>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000487943
  gene symbol: IFT80
  hgvsc: ENST00000487943.1:n.1769-8432G>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000312778
  ensembl transcript: ENST00000326448
  gene symbol: IFT80
  hgvsc: ENST00000326448.7:c.549+33G>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000419458
  ensembl transcript: ENST00000475677
  gene symbol: IFT80
  hgvsc: ENST00000475677.1:c.138+33G>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420646
  ensembl transcript: ENST00000496589
  gene symbol: IFT80
  hgvsc: ENST00000496589.1:c.138+33G>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418602
  ensembl transcript: ENST00000465537
  gene symbol: IFT80
  hgvsc: ENST00000465537.1:c.138+33G>A
  variant of: http://identifiers.org/hgnc/29262
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1626
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7423
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5150
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2246
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2166
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7604
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7759
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3676
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5111
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4013
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6475
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3092
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8006
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

3-160083800-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160083800
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160083800
    reference: chr 3
allele count: 1
allele frequency: 8.265282507356101e-6
allele num: 120988
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418602
  ensembl transcript: ENST00000465537
  gene symbol: IFT80
  hgvsc: ENST00000465537.1:c.138+31A>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418196
  ensembl transcript: ENST00000483465
  gene symbol: IFT80
  hgvsc: ENST00000483465.1:c.138+31A>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000478460
  gene symbol: IFT80
  hgvsc: ENST00000478460.1:n.257-8434A>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000472773
  gene symbol: IFT80
  hgvsc: ENST00000472773.1:n.564-8434A>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000419458
  ensembl transcript: ENST00000475677
  gene symbol: IFT80
  hgvsc: ENST00000475677.1:c.138+31A>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420260
  ensembl transcript: ENST00000484963
  gene symbol: IFT80
  hgvsc: ENST00000484963.1:c.154+81A>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000487943
  gene symbol: IFT80
  hgvsc: ENST00000487943.1:n.1769-8434A>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420646
  ensembl transcript: ENST00000496589
  gene symbol: IFT80
  hgvsc: ENST00000496589.1:c.138+31A>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.1062+31A>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000312778
  ensembl transcript: ENST00000326448
  gene symbol: IFT80
  hgvsc: ENST00000326448.7:c.549+31A>G
  variant of: http://identifiers.org/hgnc/29262
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5150
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5114
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1626
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7774
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7602
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6476
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2166
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4013
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2273
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7427
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3676
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3092
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2796
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ

3-160083807-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160083807
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160083807
    reference: chr 3
allele count: 2
allele frequency: 1.652346331791144e-5
allele num: 121040
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420646
  ensembl transcript: ENST00000496589
  gene symbol: IFT80
  hgvsc: ENST00000496589.1:c.138+24T>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000478460
  gene symbol: IFT80
  hgvsc: ENST00000478460.1:n.257-8441T>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000472773
  gene symbol: IFT80
  hgvsc: ENST00000472773.1:n.564-8441T>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000487943
  gene symbol: IFT80
  hgvsc: ENST00000487943.1:n.1769-8441T>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418602
  ensembl transcript: ENST00000465537
  gene symbol: IFT80
  hgvsc: ENST00000465537.1:c.138+24T>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.1062+24T>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418196
  ensembl transcript: ENST00000483465
  gene symbol: IFT80
  hgvsc: ENST00000483465.1:c.138+24T>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000419458
  ensembl transcript: ENST00000475677
  gene symbol: IFT80
  hgvsc: ENST00000475677.1:c.138+24T>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000312778
  ensembl transcript: ENST00000326448
  gene symbol: IFT80
  hgvsc: ENST00000326448.7:c.549+24T>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420260
  ensembl transcript: ENST00000484963
  gene symbol: IFT80
  hgvsc: ENST00000484963.1:c.154+74T>A
  variant of: http://identifiers.org/hgnc/29262
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3092
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5151
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3676
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5136
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2337
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6477
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7796
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1626
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2166
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4013
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7428
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7603
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: African
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

3-160083815-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160083815
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160083815
    reference: chr 3
allele count: 55
allele frequency: 4.542826464029074e-4
allele num: 121070
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000478460
  gene symbol: IFT80
  hgvsc: ENST00000478460.1:n.257-8449T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418602
  ensembl transcript: ENST00000465537
  gene symbol: IFT80
  hgvsc: ENST00000465537.1:c.138+16T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000312778
  ensembl transcript: ENST00000326448
  gene symbol: IFT80
  hgvsc: ENST00000326448.7:c.549+16T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418196
  ensembl transcript: ENST00000483465
  gene symbol: IFT80
  hgvsc: ENST00000483465.1:c.138+16T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420260
  ensembl transcript: ENST00000484963
  gene symbol: IFT80
  hgvsc: ENST00000484963.1:c.154+66T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000419458
  ensembl transcript: ENST00000475677
  gene symbol: IFT80
  hgvsc: ENST00000475677.1:c.138+16T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000487943
  gene symbol: IFT80
  hgvsc: ENST00000487943.1:n.1769-8449T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420646
  ensembl transcript: ENST00000496589
  gene symbol: IFT80
  hgvsc: ENST00000496589.1:c.138+16T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.1062+16T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000472773
  gene symbol: IFT80
  hgvsc: ENST00000472773.1:n.564-8449T>C
  variant of: http://identifiers.org/hgnc/29262
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6470
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5145
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2165
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2381
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4005
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7793
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7426
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3093
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 7.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 5161
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7608
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3697
  bin: 9.75e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 1972
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

3-160083821-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160083821
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160083821
    reference: chr 3
allele count: 1
allele frequency: 8.257638315441784e-6
allele num: 121100
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000478460
  gene symbol: IFT80
  hgvsc: ENST00000478460.1:n.257-8455A>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418196
  ensembl transcript: ENST00000483465
  gene symbol: IFT80
  hgvsc: ENST00000483465.1:c.138+10A>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418602
  ensembl transcript: ENST00000465537
  gene symbol: IFT80
  hgvsc: ENST00000465537.1:c.138+10A>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.1062+10A>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000472773
  gene symbol: IFT80
  hgvsc: ENST00000472773.1:n.564-8455A>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000312778
  ensembl transcript: ENST00000326448
  gene symbol: IFT80
  hgvsc: ENST00000326448.7:c.549+10A>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420260
  ensembl transcript: ENST00000484963
  gene symbol: IFT80
  hgvsc: ENST00000484963.1:c.154+60A>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420646
  ensembl transcript: ENST00000496589
  gene symbol: IFT80
  hgvsc: ENST00000496589.1:c.138+10A>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000487943
  gene symbol: IFT80
  hgvsc: ENST00000487943.1:n.1769-8455A>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000419458
  ensembl transcript: ENST00000475677
  gene symbol: IFT80
  hgvsc: ENST00000475677.1:c.138+10A>T
  variant of: http://identifiers.org/hgnc/29262
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2401
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5149
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7802
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6473
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4007
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7426
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3685
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3093
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5179
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7608
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3216
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

3-160083824-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160083824
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160083824
    reference: chr 3
allele count: 1
allele frequency: 8.257092842751923e-6
allele num: 121108
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000478460
  gene symbol: IFT80
  hgvsc: ENST00000478460.1:n.257-8458C>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000472773
  gene symbol: IFT80
  hgvsc: ENST00000472773.1:n.564-8458C>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418602
  ensembl transcript: ENST00000465537
  gene symbol: IFT80
  hgvsc: ENST00000465537.1:c.138+7C>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420260
  ensembl transcript: ENST00000484963
  gene symbol: IFT80
  hgvsc: ENST00000484963.1:c.154+57C>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.1062+7C>T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000419458
  ensembl transcript: ENST00000475677
  gene symbol: IFT80
  hgvsc: ENST00000475677.1:c.138+7C>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000312778
  ensembl transcript: ENST00000326448
  gene symbol: IFT80
  hgvsc: ENST00000326448.7:c.549+7C>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418196
  ensembl transcript: ENST00000483465
  gene symbol: IFT80
  hgvsc: ENST00000483465.1:c.138+7C>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000487943
  gene symbol: IFT80
  hgvsc: ENST00000487943.1:n.1769-8458C>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420646
  ensembl transcript: ENST00000496589
  gene symbol: IFT80
  hgvsc: ENST00000496589.1:c.138+7C>T
  variant of: http://identifiers.org/hgnc/29262
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3093
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5186
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7808
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4007
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7425
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6473
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7611
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2402
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5150
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3686
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
hgvs: c.549+7C>T
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ

3-160083824-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160083824
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160083824
    reference: chr 3
allele count: 1
allele frequency: 8.257092842751923e-6
allele num: 121108
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420260
  ensembl transcript: ENST00000484963
  gene symbol: IFT80
  hgvsc: ENST00000484963.1:c.154+57C>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418602
  ensembl transcript: ENST00000465537
  gene symbol: IFT80
  hgvsc: ENST00000465537.1:c.138+7C>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000312778
  ensembl transcript: ENST00000326448
  gene symbol: IFT80
  hgvsc: ENST00000326448.7:c.549+7C>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418196
  ensembl transcript: ENST00000483465
  gene symbol: IFT80
  hgvsc: ENST00000483465.1:c.138+7C>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000472773
  gene symbol: IFT80
  hgvsc: ENST00000472773.1:n.564-8458C>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420646
  ensembl transcript: ENST00000496589
  gene symbol: IFT80
  hgvsc: ENST00000496589.1:c.138+7C>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000487943
  gene symbol: IFT80
  hgvsc: ENST00000487943.1:n.1769-8458C>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000419458
  ensembl transcript: ENST00000475677
  gene symbol: IFT80
  hgvsc: ENST00000475677.1:c.138+7C>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.1062+7C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000478460
  gene symbol: IFT80
  hgvsc: ENST00000478460.1:n.257-8458C>G
  variant of: http://identifiers.org/hgnc/29262
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7611
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7425
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5186
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7808
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4007
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3093
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3686
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2402
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5150
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6473
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
hgvs: c.549+7C>G
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

3-160083827-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160083827
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160083827
    reference: chr 3
allele count: 1
allele frequency: 8.256274768824306e-6
allele num: 121120
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418196
  ensembl transcript: ENST00000483465
  gene symbol: IFT80
  hgvsc: ENST00000483465.1:c.138+4C>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000419458
  ensembl transcript: ENST00000475677
  gene symbol: IFT80
  hgvsc: ENST00000475677.1:c.138+4C>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420646
  ensembl transcript: ENST00000496589
  gene symbol: IFT80
  hgvsc: ENST00000496589.1:c.138+4C>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000472773
  gene symbol: IFT80
  hgvsc: ENST00000472773.1:n.564-8461C>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418602
  ensembl transcript: ENST00000465537
  gene symbol: IFT80
  hgvsc: ENST00000465537.1:c.138+4C>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.1062+4C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000487943
  gene symbol: IFT80
  hgvsc: ENST00000487943.1:n.1769-8461C>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000312778
  ensembl transcript: ENST00000326448
  gene symbol: IFT80
  hgvsc: ENST00000326448.7:c.549+4C>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000478460
  gene symbol: IFT80
  hgvsc: ENST00000478460.1:n.257-8461C>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420260
  ensembl transcript: ENST00000484963
  gene symbol: IFT80
  hgvsc: ENST00000484963.1:c.154+54C>G
  variant of: http://identifiers.org/hgnc/29262
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4007
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5150
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7614
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7425
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7809
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6472
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3687
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5191
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3093
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1626
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2408
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
hgvs: c.549+4C>G
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

3-160083834-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160083834
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160083834
    reference: chr 3
allele count: 29
allele frequency: 2.393252677967221e-4
allele num: 121174
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000312778
  ensembl transcript: ENST00000326448
  gene symbol: IFT80
  hgvsc: ENST00000326448.7:c.546G>A
  hgvsp: ENST00000326448.7:c.546G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000478460
  gene symbol: IFT80
  hgvsc: ENST00000478460.1:n.257-8468G>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.1059G>A
  hgvsp: ENST00000483754.1:c.1059G>A(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418602
  ensembl transcript: ENST00000465537
  gene symbol: IFT80
  hgvsc: ENST00000465537.1:c.135G>A
  hgvsp: ENST00000465537.1:c.135G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418196
  ensembl transcript: ENST00000483465
  gene symbol: IFT80
  hgvsc: ENST00000483465.1:c.135G>A
  hgvsp: ENST00000483465.1:c.135G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420260
  ensembl transcript: ENST00000484963
  gene symbol: IFT80
  hgvsc: ENST00000484963.1:c.154+47G>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000419458
  ensembl transcript: ENST00000475677
  gene symbol: IFT80
  hgvsc: ENST00000475677.1:c.135G>A
  hgvsp: ENST00000475677.1:c.135G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420646
  ensembl transcript: ENST00000496589
  gene symbol: IFT80
  hgvsc: ENST00000496589.1:c.135G>A
  hgvsp: ENST00000496589.1:c.135G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000472773
  gene symbol: IFT80
  hgvsc: ENST00000472773.1:n.564-8468G>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000487943
  gene symbol: IFT80
  hgvsc: ENST00000487943.1:n.1769-8468G>A
  variant of: http://identifiers.org/hgnc/29262
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6471
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7819
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7423
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2430
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4008
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5194
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1626
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7610
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3093
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5148
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2171
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3703
  bin: 9.75e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 3216
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu182Leu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: VQSLOD

3-160083852-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160083852
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160083852
    reference: chr 3
allele count: 3
allele frequency: 2.474553343121567e-5
allele num: 121234
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000419458
  ensembl transcript: ENST00000475677
  gene symbol: IFT80
  hgvsc: ENST00000475677.1:c.117A>G
  hgvsp: ENST00000475677.1:c.117A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417057
  ensembl transcript: ENST00000468218
  gene symbol: IFT80
  hgvsc: ENST00000468218.1:c.117A>G
  hgvsp: ENST00000468218.1:c.117A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000472773
  gene symbol: IFT80
  hgvsc: ENST00000472773.1:n.564-8486A>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420260
  ensembl transcript: ENST00000484963
  gene symbol: IFT80
  hgvsc: ENST00000484963.1:c.154+29A>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420001
  ensembl transcript: ENST00000498409
  gene symbol: IFT80
  hgvsc: ENST00000498409.1:c.528A>G
  hgvsp: ENST00000498409.1:c.528A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000312778
  ensembl transcript: ENST00000326448
  gene symbol: IFT80
  hgvsc: ENST00000326448.7:c.528A>G
  hgvsp: ENST00000326448.7:c.528A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.1041A>G
  hgvsp: ENST00000483754.1:c.1041A>G(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418602
  ensembl transcript: ENST00000465537
  gene symbol: IFT80
  hgvsc: ENST00000465537.1:c.117A>G
  hgvsp: ENST00000465537.1:c.117A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000478460
  gene symbol: IFT80
  hgvsc: ENST00000478460.1:n.257-8486A>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418196
  ensembl transcript: ENST00000483465
  gene symbol: IFT80
  hgvsc: ENST00000483465.1:c.117A>G
  hgvsp: ENST00000483465.1:c.117A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000487943
  gene symbol: IFT80
  hgvsc: ENST00000487943.1:n.1769-8486A>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420646
  ensembl transcript: ENST00000496589
  gene symbol: IFT80
  hgvsc: ENST00000496589.1:c.117A>G
  hgvsp: ENST00000496589.1:c.117A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29262
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7822
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7610
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3096
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2445
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7425
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5220
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5150
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2171
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4007
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln176Gln
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ

3-160083859-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160083859
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160083859
    reference: chr 3
allele count: 3
allele frequency: 2.474594166556685e-5
allele num: 121232
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000487943
  gene symbol: IFT80
  hgvsc: ENST00000487943.1:n.1769-8493C>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000472773
  gene symbol: IFT80
  hgvsc: ENST00000472773.1:n.564-8493C>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000312778
  ensembl transcript: ENST00000326448
  gene symbol: IFT80
  hgvsc: ENST00000326448.7:c.521C>T
  hgvsp: ENSP00000312778.7:p.Pro174Leu
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000419458
  ensembl transcript: ENST00000475677
  gene symbol: IFT80
  hgvsc: ENST00000475677.1:c.110C>T
  hgvsp: ENSP00000419458.1:p.Pro37Leu
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420001
  ensembl transcript: ENST00000498409
  gene symbol: IFT80
  hgvsc: ENST00000498409.1:c.521C>T
  hgvsp: ENSP00000420001.1:p.Pro174Leu
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.1034C>T
  hgvsp: ENSP00000456272.1:p.Pro345Leu
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418602
  ensembl transcript: ENST00000465537
  gene symbol: IFT80
  hgvsc: ENST00000465537.1:c.110C>T
  hgvsp: ENSP00000418602.1:p.Pro37Leu
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420646
  ensembl transcript: ENST00000496589
  gene symbol: IFT80
  hgvsc: ENST00000496589.1:c.110C>T
  hgvsp: ENSP00000420646.1:p.Pro37Leu
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417057
  ensembl transcript: ENST00000468218
  gene symbol: IFT80
  hgvsc: ENST00000468218.1:c.110C>T
  hgvsp: ENSP00000417057.1:p.Pro37Leu
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418196
  ensembl transcript: ENST00000483465
  gene symbol: IFT80
  hgvsc: ENST00000483465.1:c.110C>T
  hgvsp: ENSP00000418196.1:p.Pro37Leu
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000478460
  gene symbol: IFT80
  hgvsc: ENST00000478460.1:n.257-8493C>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420260
  ensembl transcript: ENST00000484963
  gene symbol: IFT80
  hgvsc: ENST00000484963.1:c.154+22C>T
  variant of: http://identifiers.org/hgnc/29262
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3694
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6469
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2445
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7610
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3096
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5226
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7826
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7424
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5150
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4008
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Pro174Leu
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

3-160083869-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160083869
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160083869
    reference: chr 3
allele count: 10
allele frequency: 8.248239000973292e-5
allele num: 121238
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420260
  ensembl transcript: ENST00000484963
  gene symbol: IFT80
  hgvsc: ENST00000484963.1:c.154+12A>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417057
  ensembl transcript: ENST00000468218
  gene symbol: IFT80
  hgvsc: ENST00000468218.1:c.100A>G
  hgvsp: ENSP00000417057.1:p.Ile34Val
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418602
  ensembl transcript: ENST00000465537
  gene symbol: IFT80
  hgvsc: ENST00000465537.1:c.100A>G
  hgvsp: ENSP00000418602.1:p.Ile34Val
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420001
  ensembl transcript: ENST00000498409
  gene symbol: IFT80
  hgvsc: ENST00000498409.1:c.511A>G
  hgvsp: ENSP00000420001.1:p.Ile171Val
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000478460
  gene symbol: IFT80
  hgvsc: ENST00000478460.1:n.257-8503A>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000312778
  ensembl transcript: ENST00000326448
  gene symbol: IFT80
  hgvsc: ENST00000326448.7:c.511A>G
  hgvsp: ENSP00000312778.7:p.Ile171Val
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418196
  ensembl transcript: ENST00000483465
  gene symbol: IFT80
  hgvsc: ENST00000483465.1:c.100A>G
  hgvsp: ENSP00000418196.1:p.Ile34Val
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.1024A>G
  hgvsp: ENSP00000456272.1:p.Ile342Val
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000419458
  ensembl transcript: ENST00000475677
  gene symbol: IFT80
  hgvsc: ENST00000475677.1:c.100A>G
  hgvsp: ENSP00000419458.1:p.Ile34Val
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000487943
  gene symbol: IFT80
  hgvsc: ENST00000487943.1:n.1769-8503A>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420646
  ensembl transcript: ENST00000496589
  gene symbol: IFT80
  hgvsc: ENST00000496589.1:c.100A>G
  hgvsp: ENSP00000420646.1:p.Ile34Val
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000472773
  gene symbol: IFT80
  hgvsc: ENST00000472773.1:n.564-8503A>G
  variant of: http://identifiers.org/hgnc/29262
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5232
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7826
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7423
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7610
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4008
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5149
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6469
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3095
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2447
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile171Val
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum

3-160083889-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160083889
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160083889
    reference: chr 3
allele count: 2
allele frequency: 1.649321304283287e-5
allele num: 121262
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000472773
  gene symbol: IFT80
  hgvsc: ENST00000472773.1:n.564-8523A>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000478460
  gene symbol: IFT80
  hgvsc: ENST00000478460.1:n.257-8523A>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417057
  ensembl transcript: ENST00000468218
  gene symbol: IFT80
  hgvsc: ENST00000468218.1:c.80A>G
  hgvsp: ENSP00000417057.1:p.Tyr27Cys
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420646
  ensembl transcript: ENST00000496589
  gene symbol: IFT80
  hgvsc: ENST00000496589.1:c.80A>G
  hgvsp: ENSP00000420646.1:p.Tyr27Cys
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420260
  ensembl transcript: ENST00000484963
  gene symbol: IFT80
  hgvsc: ENST00000484963.1:c.146A>G
  hgvsp: ENSP00000420260.1:p.Tyr49Cys
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.1004A>G
  hgvsp: ENSP00000456272.1:p.Tyr335Cys
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000487943
  gene symbol: IFT80
  hgvsc: ENST00000487943.1:n.1769-8523A>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420001
  ensembl transcript: ENST00000498409
  gene symbol: IFT80
  hgvsc: ENST00000498409.1:c.491A>G
  hgvsp: ENSP00000420001.1:p.Tyr164Cys
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418602
  ensembl transcript: ENST00000465537
  gene symbol: IFT80
  hgvsc: ENST00000465537.1:c.80A>G
  hgvsp: ENSP00000418602.1:p.Tyr27Cys
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000312778
  ensembl transcript: ENST00000326448
  gene symbol: IFT80
  hgvsc: ENST00000326448.7:c.491A>G
  hgvsp: ENSP00000312778.7:p.Tyr164Cys
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000419458
  ensembl transcript: ENST00000475677
  gene symbol: IFT80
  hgvsc: ENST00000475677.1:c.80A>G
  hgvsp: ENSP00000419458.1:p.Tyr27Cys
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417861
  ensembl transcript: ENST00000486856
  gene symbol: IFT80
  hgvsc: ENST00000486856.1:c.80A>G
  hgvsp: ENSP00000417861.1:p.Tyr27Cys
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418196
  ensembl transcript: ENST00000483465
  gene symbol: IFT80
  hgvsc: ENST00000483465.1:c.80A>G
  hgvsp: ENSP00000418196.1:p.Tyr27Cys
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420758
  ensembl transcript: ENST00000478370
  gene symbol: IFT80
  hgvsc: ENST00000478370.1:c.80A>G
  hgvsp: ENSP00000420758.1:p.Tyr27Cys
  variant of: http://identifiers.org/hgnc/29262
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4006
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7609
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3096
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6470
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5231
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7423
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7825
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr335Cys
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQ

3-160083895-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160083895
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160083895
    reference: chr 3
allele count: 4
allele frequency: 3.298642608566575e-5
allele num: 121262
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000312778
  ensembl transcript: ENST00000326448
  gene symbol: IFT80
  hgvsc: ENST00000326448.7:c.485T>C
  hgvsp: ENSP00000312778.7:p.Val162Ala
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420001
  ensembl transcript: ENST00000498409
  gene symbol: IFT80
  hgvsc: ENST00000498409.1:c.485T>C
  hgvsp: ENSP00000420001.1:p.Val162Ala
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418196
  ensembl transcript: ENST00000483465
  gene symbol: IFT80
  hgvsc: ENST00000483465.1:c.74T>C
  hgvsp: ENSP00000418196.1:p.Val25Ala
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417057
  ensembl transcript: ENST00000468218
  gene symbol: IFT80
  hgvsc: ENST00000468218.1:c.74T>C
  hgvsp: ENSP00000417057.1:p.Val25Ala
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418602
  ensembl transcript: ENST00000465537
  gene symbol: IFT80
  hgvsc: ENST00000465537.1:c.74T>C
  hgvsp: ENSP00000418602.1:p.Val25Ala
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000487943
  gene symbol: IFT80
  hgvsc: ENST00000487943.1:n.1769-8529T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420646
  ensembl transcript: ENST00000496589
  gene symbol: IFT80
  hgvsc: ENST00000496589.1:c.74T>C
  hgvsp: ENSP00000420646.1:p.Val25Ala
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000478460
  gene symbol: IFT80
  hgvsc: ENST00000478460.1:n.257-8529T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000419458
  ensembl transcript: ENST00000475677
  gene symbol: IFT80
  hgvsc: ENST00000475677.1:c.74T>C
  hgvsp: ENSP00000419458.1:p.Val25Ala
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420260
  ensembl transcript: ENST00000484963
  gene symbol: IFT80
  hgvsc: ENST00000484963.1:c.140T>C
  hgvsp: ENSP00000420260.1:p.Val47Ala
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000472773
  gene symbol: IFT80
  hgvsc: ENST00000472773.1:n.564-8529T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420758
  ensembl transcript: ENST00000478370
  gene symbol: IFT80
  hgvsc: ENST00000478370.1:c.74T>C
  hgvsp: ENSP00000420758.1:p.Val25Ala
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417861
  ensembl transcript: ENST00000486856
  gene symbol: IFT80
  hgvsc: ENST00000486856.1:c.74T>C
  hgvsp: ENSP00000417861.1:p.Val25Ala
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.998T>C
  hgvsp: ENSP00000456272.1:p.Val333Ala
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7608
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6469
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5228
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2437
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7827
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5149
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3096
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val333Ala
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD

3-160083912-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160083912
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160083912
    reference: chr 3
allele count: 10
allele frequency: 8.248102936324645e-5
allele num: 121240
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420646
  ensembl transcript: ENST00000496589
  gene symbol: IFT80
  hgvsc: ENST00000496589.1:c.57C>T
  hgvsp: ENST00000496589.1:c.57C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418196
  ensembl transcript: ENST00000483465
  gene symbol: IFT80
  hgvsc: ENST00000483465.1:c.57C>T
  hgvsp: ENST00000483465.1:c.57C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000419458
  ensembl transcript: ENST00000475677
  gene symbol: IFT80
  hgvsc: ENST00000475677.1:c.57C>T
  hgvsp: ENST00000475677.1:c.57C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.981C>T
  hgvsp: ENST00000483754.1:c.981C>T(p.%3D)
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000487943
  gene symbol: IFT80
  hgvsc: ENST00000487943.1:n.1769-8546C>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000312778
  ensembl transcript: ENST00000326448
  gene symbol: IFT80
  hgvsc: ENST00000326448.7:c.468C>T
  hgvsp: ENST00000326448.7:c.468C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420001
  ensembl transcript: ENST00000498409
  gene symbol: IFT80
  hgvsc: ENST00000498409.1:c.468C>T
  hgvsp: ENST00000498409.1:c.468C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418602
  ensembl transcript: ENST00000465537
  gene symbol: IFT80
  hgvsc: ENST00000465537.1:c.57C>T
  hgvsp: ENST00000465537.1:c.57C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417057
  ensembl transcript: ENST00000468218
  gene symbol: IFT80
  hgvsc: ENST00000468218.1:c.57C>T
  hgvsp: ENST00000468218.1:c.57C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417861
  ensembl transcript: ENST00000486856
  gene symbol: IFT80
  hgvsc: ENST00000486856.1:c.57C>T
  hgvsp: ENST00000486856.1:c.57C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420758
  ensembl transcript: ENST00000478370
  gene symbol: IFT80
  hgvsc: ENST00000478370.1:c.57C>T
  hgvsp: ENST00000478370.1:c.57C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000478460
  gene symbol: IFT80
  hgvsc: ENST00000478460.1:n.257-8546C>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000472773
  gene symbol: IFT80
  hgvsc: ENST00000472773.1:n.564-8546C>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420260
  ensembl transcript: ENST00000484963
  gene symbol: IFT80
  hgvsc: ENST00000484963.1:c.123C>T
  hgvsp: ENST00000484963.1:c.123C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29262
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5214
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7613
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7811
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2371
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6469
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4006
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly327Gly
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP

3-160083918-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160083918
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160083918
    reference: chr 3
allele count: 2071
allele frequency: 1.708379390559781e-2
allele num: 121226
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418602
  ensembl transcript: ENST00000465537
  gene symbol: IFT80
  hgvsc: ENST00000465537.1:c.51G>A
  hgvsp: ENST00000465537.1:c.51G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420646
  ensembl transcript: ENST00000496589
  gene symbol: IFT80
  hgvsc: ENST00000496589.1:c.51G>A
  hgvsp: ENST00000496589.1:c.51G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000312778
  ensembl transcript: ENST00000326448
  gene symbol: IFT80
  hgvsc: ENST00000326448.7:c.462G>A
  hgvsp: ENST00000326448.7:c.462G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418196
  ensembl transcript: ENST00000483465
  gene symbol: IFT80
  hgvsc: ENST00000483465.1:c.51G>A
  hgvsp: ENST00000483465.1:c.51G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420758
  ensembl transcript: ENST00000478370
  gene symbol: IFT80
  hgvsc: ENST00000478370.1:c.51G>A
  hgvsp: ENST00000478370.1:c.51G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000472773
  gene symbol: IFT80
  hgvsc: ENST00000472773.1:n.564-8552G>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417057
  ensembl transcript: ENST00000468218
  gene symbol: IFT80
  hgvsc: ENST00000468218.1:c.51G>A
  hgvsp: ENST00000468218.1:c.51G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.975G>A
  hgvsp: ENST00000483754.1:c.975G>A(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417861
  ensembl transcript: ENST00000486856
  gene symbol: IFT80
  hgvsc: ENST00000486856.1:c.51G>A
  hgvsp: ENST00000486856.1:c.51G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000478460
  gene symbol: IFT80
  hgvsc: ENST00000478460.1:n.257-8552G>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420001
  ensembl transcript: ENST00000498409
  gene symbol: IFT80
  hgvsc: ENST00000498409.1:c.462G>A
  hgvsp: ENST00000498409.1:c.462G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420260
  ensembl transcript: ENST00000484963
  gene symbol: IFT80
  hgvsc: ENST00000484963.1:c.117G>A
  hgvsp: ENST00000484963.1:c.117G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000487943
  gene symbol: IFT80
  hgvsc: ENST00000487943.1:n.1769-8552G>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000419458
  ensembl transcript: ENST00000475677
  gene symbol: IFT80
  hgvsc: ENST00000475677.1:c.51G>A
  hgvsp: ENST00000475677.1:c.51G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29262
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 9.25e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3860
  bin: 5.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4981
  bin: 5.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 2116
  bin: 6.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 7.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 2284
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5229
  bin: 9.75e1
  variant carriers: 1755
genotype depth: GenotypeDepth
  all individuals: 7625
  bin: 3.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7428
  bin: 3.75e1
  variant carriers: 25
genotype quality: GenotypeQuality
hgvs: p.Ala325Ala
num of homozygotes: 30
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

3-160083948-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160083948
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160083948
    reference: chr 3
allele count: 1
allele frequency: 8.315593400745077e-6
allele num: 120256
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418602
  ensembl transcript: ENST00000465537
  gene symbol: IFT80
  hgvsc: ENST00000465537.1:c.29-8T>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000487943
  gene symbol: IFT80
  hgvsc: ENST00000487943.1:n.1769-8582T>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000312778
  ensembl transcript: ENST00000326448
  gene symbol: IFT80
  hgvsc: ENST00000326448.7:c.440-8T>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417057
  ensembl transcript: ENST00000468218
  gene symbol: IFT80
  hgvsc: ENST00000468218.1:c.29-8T>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000478460
  gene symbol: IFT80
  hgvsc: ENST00000478460.1:n.257-8582T>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420758
  ensembl transcript: ENST00000478370
  gene symbol: IFT80
  hgvsc: ENST00000478370.1:c.29-8T>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418196
  ensembl transcript: ENST00000483465
  gene symbol: IFT80
  hgvsc: ENST00000483465.1:c.29-8T>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000472773
  gene symbol: IFT80
  hgvsc: ENST00000472773.1:n.564-8582T>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.953-8T>A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420260
  ensembl transcript: ENST00000484963
  gene symbol: IFT80
  hgvsc: ENST00000484963.1:c.95-8T>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420001
  ensembl transcript: ENST00000498409
  gene symbol: IFT80
  hgvsc: ENST00000498409.1:c.440-8T>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417861
  ensembl transcript: ENST00000486856
  gene symbol: IFT80
  hgvsc: ENST00000486856.1:c.29-8T>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420646
  ensembl transcript: ENST00000496589
  gene symbol: IFT80
  hgvsc: ENST00000496589.1:c.29-8T>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000419458
  ensembl transcript: ENST00000475677
  gene symbol: IFT80
  hgvsc: ENST00000475677.1:c.29-8T>A
  variant of: http://identifiers.org/hgnc/29262
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7516
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6349
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7250
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3833
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1826
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1669
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.953-8T>A
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff

3-160083949-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160083949
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160083949
    reference: chr 3
allele count: 1
allele frequency: 8.317945134833891e-6
allele num: 120222
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418196
  ensembl transcript: ENST00000483465
  gene symbol: IFT80
  hgvsc: ENST00000483465.1:c.29-9A>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418602
  ensembl transcript: ENST00000465537
  gene symbol: IFT80
  hgvsc: ENST00000465537.1:c.29-9A>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420646
  ensembl transcript: ENST00000496589
  gene symbol: IFT80
  hgvsc: ENST00000496589.1:c.29-9A>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000478460
  gene symbol: IFT80
  hgvsc: ENST00000478460.1:n.257-8583A>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000487943
  gene symbol: IFT80
  hgvsc: ENST00000487943.1:n.1769-8583A>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420758
  ensembl transcript: ENST00000478370
  gene symbol: IFT80
  hgvsc: ENST00000478370.1:c.29-9A>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417057
  ensembl transcript: ENST00000468218
  gene symbol: IFT80
  hgvsc: ENST00000468218.1:c.29-9A>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000312778
  ensembl transcript: ENST00000326448
  gene symbol: IFT80
  hgvsc: ENST00000326448.7:c.440-9A>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417861
  ensembl transcript: ENST00000486856
  gene symbol: IFT80
  hgvsc: ENST00000486856.1:c.29-9A>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000419458
  ensembl transcript: ENST00000475677
  gene symbol: IFT80
  hgvsc: ENST00000475677.1:c.29-9A>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420001
  ensembl transcript: ENST00000498409
  gene symbol: IFT80
  hgvsc: ENST00000498409.1:c.440-9A>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.953-9A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000472773
  gene symbol: IFT80
  hgvsc: ENST00000472773.1:n.564-8583A>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420260
  ensembl transcript: ENST00000484963
  gene symbol: IFT80
  hgvsc: ENST00000484963.1:c.95-9A>G
  variant of: http://identifiers.org/hgnc/29262
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7249
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1824
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4718
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3951
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3096
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5066
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7515
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7409
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3833
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD

3-160083949-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160083949
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160083950
    reference: chr 3
allele count: 1
allele frequency: 8.317945134833891e-6
allele num: 120222
alternate allele: TA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420758
  ensembl transcript: ENST00000478370
  gene symbol: IFT80
  hgvsc: ENST00000478370.1:c.29-10_29-9insT
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000419458
  ensembl transcript: ENST00000475677
  gene symbol: IFT80
  hgvsc: ENST00000475677.1:c.29-10_29-9insT
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420260
  ensembl transcript: ENST00000484963
  gene symbol: IFT80
  hgvsc: ENST00000484963.1:c.95-10_95-9insT
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000478460
  gene symbol: IFT80
  hgvsc: ENST00000478460.1:n.257-8584_257-8583insT
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417861
  ensembl transcript: ENST00000486856
  gene symbol: IFT80
  hgvsc: ENST00000486856.1:c.29-10_29-9insT
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417057
  ensembl transcript: ENST00000468218
  gene symbol: IFT80
  hgvsc: ENST00000468218.1:c.29-10_29-9insT
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418196
  ensembl transcript: ENST00000483465
  gene symbol: IFT80
  hgvsc: ENST00000483465.1:c.29-10_29-9insT
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420646
  ensembl transcript: ENST00000496589
  gene symbol: IFT80
  hgvsc: ENST00000496589.1:c.29-10_29-9insT
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.953-10_953-9insT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418602
  ensembl transcript: ENST00000465537
  gene symbol: IFT80
  hgvsc: ENST00000465537.1:c.29-10_29-9insT
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420001
  ensembl transcript: ENST00000498409
  gene symbol: IFT80
  hgvsc: ENST00000498409.1:c.440-10_440-9insT
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000312778
  ensembl transcript: ENST00000326448
  gene symbol: IFT80
  hgvsc: ENST00000326448.7:c.440-10_440-9insT
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000472773
  gene symbol: IFT80
  hgvsc: ENST00000472773.1:n.564-8584_564-8583insT
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000487943
  gene symbol: IFT80
  hgvsc: ENST00000487943.1:n.1769-8584_1769-8583insT
  variant of: http://identifiers.org/hgnc/29262
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 5066
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3096
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7409
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3951
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7249
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6347
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7515
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4718
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD

3-160083950-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160083950
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160083950
    reference: chr 3
allele count: 1
allele frequency: 8.344180768332166e-6
allele num: 119844
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418196
  ensembl transcript: ENST00000483465
  gene symbol: IFT80
  hgvsc: ENST00000483465.1:c.29-10C>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418602
  ensembl transcript: ENST00000465537
  gene symbol: IFT80
  hgvsc: ENST00000465537.1:c.29-10C>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.953-10C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000419458
  ensembl transcript: ENST00000475677
  gene symbol: IFT80
  hgvsc: ENST00000475677.1:c.29-10C>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420260
  ensembl transcript: ENST00000484963
  gene symbol: IFT80
  hgvsc: ENST00000484963.1:c.95-10C>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420646
  ensembl transcript: ENST00000496589
  gene symbol: IFT80
  hgvsc: ENST00000496589.1:c.29-10C>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000487943
  gene symbol: IFT80
  hgvsc: ENST00000487943.1:n.1769-8584C>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417057
  ensembl transcript: ENST00000468218
  gene symbol: IFT80
  hgvsc: ENST00000468218.1:c.29-10C>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420758
  ensembl transcript: ENST00000478370
  gene symbol: IFT80
  hgvsc: ENST00000478370.1:c.29-10C>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000478460
  gene symbol: IFT80
  hgvsc: ENST00000478460.1:n.257-8584C>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000472773
  gene symbol: IFT80
  hgvsc: ENST00000472773.1:n.564-8584C>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417861
  ensembl transcript: ENST00000486856
  gene symbol: IFT80
  hgvsc: ENST00000486856.1:c.29-10C>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000312778
  ensembl transcript: ENST00000326448
  gene symbol: IFT80
  hgvsc: ENST00000326448.7:c.440-10C>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420001
  ensembl transcript: ENST00000498409
  gene symbol: IFT80
  hgvsc: ENST00000498409.1:c.440-10C>T
  variant of: http://identifiers.org/hgnc/29262
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7400
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7252
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5069
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3947
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7466
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2225
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/3-160083952-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160083952
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160083952
    reference: chr 3
allele count: 1
allele frequency: 8.347106058329577e-6
allele num: 119802
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420001
  ensembl transcript: ENST00000498409
  gene symbol: IFT80
  hgvsc: ENST00000498409.1:c.440-12T>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000312778
  ensembl transcript: ENST00000326448
  gene symbol: IFT80
  hgvsc: ENST00000326448.7:c.440-12T>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417057
  ensembl transcript: ENST00000468218
  gene symbol: IFT80
  hgvsc: ENST00000468218.1:c.29-12T>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000478460
  gene symbol: IFT80
  hgvsc: ENST00000478460.1:n.257-8586T>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000419458
  ensembl transcript: ENST00000475677
  gene symbol: IFT80
  hgvsc: ENST00000475677.1:c.29-12T>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420646
  ensembl transcript: ENST00000496589
  gene symbol: IFT80
  hgvsc: ENST00000496589.1:c.29-12T>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420758
  ensembl transcript: ENST00000478370
  gene symbol: IFT80
  hgvsc: ENST00000478370.1:c.29-12T>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000487943
  gene symbol: IFT80
  hgvsc: ENST00000487943.1:n.1769-8586T>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418602
  ensembl transcript: ENST00000465537
  gene symbol: IFT80
  hgvsc: ENST00000465537.1:c.29-12T>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420260
  ensembl transcript: ENST00000484963
  gene symbol: IFT80
  hgvsc: ENST00000484963.1:c.95-12T>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417861
  ensembl transcript: ENST00000486856
  gene symbol: IFT80
  hgvsc: ENST00000486856.1:c.29-12T>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000472773
  gene symbol: IFT80
  hgvsc: ENST00000472773.1:n.564-8586T>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418196
  ensembl transcript: ENST00000483465
  gene symbol: IFT80
  hgvsc: ENST00000483465.1:c.29-12T>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.953-12T>G
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6350
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3096
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3951
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4655
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7407
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2226
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7448
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5070
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD

3-160083957-G-GA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160083957
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160083958
    reference: chr 3
allele count: 380
allele frequency: 4.166209845411687e-3
allele num: 91210
alternate allele: GA
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420260
  ensembl transcript: ENST00000484963
  gene symbol: IFT80
  hgvsc: ENST00000484963.1:c.95-18dupT
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000312778
  ensembl transcript: ENST00000326448
  gene symbol: IFT80
  hgvsc: ENST00000326448.7:c.440-18dupT
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417861
  ensembl transcript: ENST00000486856
  gene symbol: IFT80
  hgvsc: ENST00000486856.1:c.29-18dupT
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000487943
  gene symbol: IFT80
  hgvsc: ENST00000487943.1:n.1769-8592dupT
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420646
  ensembl transcript: ENST00000496589
  gene symbol: IFT80
  hgvsc: ENST00000496589.1:c.29-18dupT
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000419458
  ensembl transcript: ENST00000475677
  gene symbol: IFT80
  hgvsc: ENST00000475677.1:c.29-18dupT
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.953-18dupT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418196
  ensembl transcript: ENST00000483465
  gene symbol: IFT80
  hgvsc: ENST00000483465.1:c.29-18dupT
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418602
  ensembl transcript: ENST00000465537
  gene symbol: IFT80
  hgvsc: ENST00000465537.1:c.29-18dupT
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000478460
  gene symbol: IFT80
  hgvsc: ENST00000478460.1:n.257-8592dupT
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417057
  ensembl transcript: ENST00000468218
  gene symbol: IFT80
  hgvsc: ENST00000468218.1:c.29-18dupT
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420001
  ensembl transcript: ENST00000498409
  gene symbol: IFT80
  hgvsc: ENST00000498409.1:c.440-18dupT
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000472773
  gene symbol: IFT80
  hgvsc: ENST00000472773.1:n.564-8592dupT
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420758
  ensembl transcript: ENST00000478370
  gene symbol: IFT80
  hgvsc: ENST00000478370.1:c.29-18dupT
  variant of: http://identifiers.org/hgnc/29262
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3323
  bin: 2.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 1.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 2.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 2724
  bin: 7.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 2060
  bin: 8.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 4685
  bin: 4.25e1
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 3147
  bin: 6.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4258
  bin: 4.75e1
  variant carriers: 68
genotype depth: GenotypeDepth
  all individuals: 1739
  bin: 9.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 4911
  bin: 3.75e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3387
  bin: 6.25e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 3846
  bin: 5.25e1
  variant carriers: 51
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

3-160083957-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160083957
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160083956
    reference: chr 3
allele count: 1346
allele frequency: 1.475715382085298e-2
allele num: 91210
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000472773
  gene symbol: IFT80
  hgvsc: ENST00000472773.1:n.564-8592delT
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420758
  ensembl transcript: ENST00000478370
  gene symbol: IFT80
  hgvsc: ENST00000478370.1:c.29-18delT
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000312778
  ensembl transcript: ENST00000326448
  gene symbol: IFT80
  hgvsc: ENST00000326448.7:c.440-18delT
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418196
  ensembl transcript: ENST00000483465
  gene symbol: IFT80
  hgvsc: ENST00000483465.1:c.29-18delT
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000419458
  ensembl transcript: ENST00000475677
  gene symbol: IFT80
  hgvsc: ENST00000475677.1:c.29-18delT
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.953-18delT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417861
  ensembl transcript: ENST00000486856
  gene symbol: IFT80
  hgvsc: ENST00000486856.1:c.29-18delT
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000487943
  gene symbol: IFT80
  hgvsc: ENST00000487943.1:n.1769-8592delT
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420646
  ensembl transcript: ENST00000496589
  gene symbol: IFT80
  hgvsc: ENST00000496589.1:c.29-18delT
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420260
  ensembl transcript: ENST00000484963
  gene symbol: IFT80
  hgvsc: ENST00000484963.1:c.95-18delT
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420001
  ensembl transcript: ENST00000498409
  gene symbol: IFT80
  hgvsc: ENST00000498409.1:c.440-18delT
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000478460
  gene symbol: IFT80
  hgvsc: ENST00000478460.1:n.257-8592delT
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417057
  ensembl transcript: ENST00000468218
  gene symbol: IFT80
  hgvsc: ENST00000468218.1:c.29-18delT
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418602
  ensembl transcript: ENST00000465537
  gene symbol: IFT80
  hgvsc: ENST00000465537.1:c.29-18delT
  variant of: http://identifiers.org/hgnc/29262
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1739
  bin: 9.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 4911
  bin: 3.75e1
  variant carriers: 214
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 2.25e1
  variant carriers: 77
genotype depth: GenotypeDepth
  all individuals: 3529
  bin: 5.75e1
  variant carriers: 174
genotype depth: GenotypeDepth
  all individuals: 4258
  bin: 4.75e1
  variant carriers: 255
genotype depth: GenotypeDepth
  all individuals: 3323
  bin: 2.75e1
  variant carriers: 110
genotype depth: GenotypeDepth
  all individuals: 2724
  bin: 7.75e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 2060
  bin: 8.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 2368
  bin: 8.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 3387
  bin: 6.25e1
  variant carriers: 137
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 1.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 3052
  bin: 7.25e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4685
  bin: 4.25e1
  variant carriers: 217
genotype quality: GenotypeQuality
num of homozygotes: 1
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: African
reference allele: GA
site quality: FS
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD

3-160083957-GAAAAA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160083957
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160083952
    reference: chr 3
allele count: 3
allele frequency: 3.289113035851332e-5
allele num: 91210
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420758
  ensembl transcript: ENST00000478370
  gene symbol: IFT80
  hgvsc: ENST00000478370.1:c.29-22_29-18delTTTTT
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000472773
  gene symbol: IFT80
  hgvsc: ENST00000472773.1:n.564-8596_564-8592delTTTTT
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417861
  ensembl transcript: ENST00000486856
  gene symbol: IFT80
  hgvsc: ENST00000486856.1:c.29-22_29-18delTTTTT
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000487943
  gene symbol: IFT80
  hgvsc: ENST00000487943.1:n.1769-8596_1769-8592delTTTTT
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000478460
  gene symbol: IFT80
  hgvsc: ENST00000478460.1:n.257-8596_257-8592delTTTTT
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420001
  ensembl transcript: ENST00000498409
  gene symbol: IFT80
  hgvsc: ENST00000498409.1:c.440-22_440-18delTTTTT
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420646
  ensembl transcript: ENST00000496589
  gene symbol: IFT80
  hgvsc: ENST00000496589.1:c.29-22_29-18delTTTTT
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000312778
  ensembl transcript: ENST00000326448
  gene symbol: IFT80
  hgvsc: ENST00000326448.7:c.440-22_440-18delTTTTT
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417057
  ensembl transcript: ENST00000468218
  gene symbol: IFT80
  hgvsc: ENST00000468218.1:c.29-22_29-18delTTTTT
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418602
  ensembl transcript: ENST00000465537
  gene symbol: IFT80
  hgvsc: ENST00000465537.1:c.29-22_29-18delTTTTT
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.953-22_953-18delTTTTT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000419458
  ensembl transcript: ENST00000475677
  gene symbol: IFT80
  hgvsc: ENST00000475677.1:c.29-22_29-18delTTTTT
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420260
  ensembl transcript: ENST00000484963
  gene symbol: IFT80
  hgvsc: ENST00000484963.1:c.95-22_95-18delTTTTT
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418196
  ensembl transcript: ENST00000483465
  gene symbol: IFT80
  hgvsc: ENST00000483465.1:c.29-22_29-18delTTTTT
  variant of: http://identifiers.org/hgnc/29262
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3846
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3323
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4258
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3529
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3147
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4911
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4685
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3387
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3052
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: GAAAAA
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ

3-160083958-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160083958
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160083958
    reference: chr 3
allele count: 9
allele frequency: 1.028877152068043e-4
allele num: 87474
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418602
  ensembl transcript: ENST00000465537
  gene symbol: IFT80
  hgvsc: ENST00000465537.1:c.29-18T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000478460
  gene symbol: IFT80
  hgvsc: ENST00000478460.1:n.257-8592T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420001
  ensembl transcript: ENST00000498409
  gene symbol: IFT80
  hgvsc: ENST00000498409.1:c.440-18T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417861
  ensembl transcript: ENST00000486856
  gene symbol: IFT80
  hgvsc: ENST00000486856.1:c.29-18T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417057
  ensembl transcript: ENST00000468218
  gene symbol: IFT80
  hgvsc: ENST00000468218.1:c.29-18T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000419458
  ensembl transcript: ENST00000475677
  gene symbol: IFT80
  hgvsc: ENST00000475677.1:c.29-18T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418196
  ensembl transcript: ENST00000483465
  gene symbol: IFT80
  hgvsc: ENST00000483465.1:c.29-18T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000487943
  gene symbol: IFT80
  hgvsc: ENST00000487943.1:n.1769-8592T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420758
  ensembl transcript: ENST00000478370
  gene symbol: IFT80
  hgvsc: ENST00000478370.1:c.29-18T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.953-18T>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420260
  ensembl transcript: ENST00000484963
  gene symbol: IFT80
  hgvsc: ENST00000484963.1:c.95-18T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420646
  ensembl transcript: ENST00000496589
  gene symbol: IFT80
  hgvsc: ENST00000496589.1:c.29-18T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000312778
  ensembl transcript: ENST00000326448
  gene symbol: IFT80
  hgvsc: ENST00000326448.7:c.440-18T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000472773
  gene symbol: IFT80
  hgvsc: ENST00000472773.1:n.564-8592T>C
  variant of: http://identifiers.org/hgnc/29262
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4210
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3158
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7007
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1883
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2194
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6072
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1705
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4288
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5186
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/3-160083959-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160083959
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160083959
    reference: chr 3
allele count: 1
allele frequency: 8.925543119298809e-6
allele num: 112038
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420758
  ensembl transcript: ENST00000478370
  gene symbol: IFT80
  hgvsc: ENST00000478370.1:c.29-19T>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417057
  ensembl transcript: ENST00000468218
  gene symbol: IFT80
  hgvsc: ENST00000468218.1:c.29-19T>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000472773
  gene symbol: IFT80
  hgvsc: ENST00000472773.1:n.564-8593T>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420001
  ensembl transcript: ENST00000498409
  gene symbol: IFT80
  hgvsc: ENST00000498409.1:c.440-19T>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.953-19T>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000312778
  ensembl transcript: ENST00000326448
  gene symbol: IFT80
  hgvsc: ENST00000326448.7:c.440-19T>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420646
  ensembl transcript: ENST00000496589
  gene symbol: IFT80
  hgvsc: ENST00000496589.1:c.29-19T>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417861
  ensembl transcript: ENST00000486856
  gene symbol: IFT80
  hgvsc: ENST00000486856.1:c.29-19T>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000419458
  ensembl transcript: ENST00000475677
  gene symbol: IFT80
  hgvsc: ENST00000475677.1:c.29-19T>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000478460
  gene symbol: IFT80
  hgvsc: ENST00000478460.1:n.257-8593T>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418602
  ensembl transcript: ENST00000465537
  gene symbol: IFT80
  hgvsc: ENST00000465537.1:c.29-19T>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418196
  ensembl transcript: ENST00000483465
  gene symbol: IFT80
  hgvsc: ENST00000483465.1:c.29-19T>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420260
  ensembl transcript: ENST00000484963
  gene symbol: IFT80
  hgvsc: ENST00000484963.1:c.95-19T>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000487943
  gene symbol: IFT80
  hgvsc: ENST00000487943.1:n.1769-8593T>G
  variant of: http://identifiers.org/hgnc/29262
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2788
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1867
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5212
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7051
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6505
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

3-160083963-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160083963
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160083963
    reference: chr 3
allele count: 2
allele frequency: 1.681407001378754e-5
allele num: 118948
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417057
  ensembl transcript: ENST00000468218
  gene symbol: IFT80
  hgvsc: ENST00000468218.1:c.29-23T>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418602
  ensembl transcript: ENST00000465537
  gene symbol: IFT80
  hgvsc: ENST00000465537.1:c.29-23T>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000478460
  gene symbol: IFT80
  hgvsc: ENST00000478460.1:n.257-8597T>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420758
  ensembl transcript: ENST00000478370
  gene symbol: IFT80
  hgvsc: ENST00000478370.1:c.29-23T>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418196
  ensembl transcript: ENST00000483465
  gene symbol: IFT80
  hgvsc: ENST00000483465.1:c.29-23T>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420260
  ensembl transcript: ENST00000484963
  gene symbol: IFT80
  hgvsc: ENST00000484963.1:c.95-23T>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000472773
  gene symbol: IFT80
  hgvsc: ENST00000472773.1:n.564-8597T>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420001
  ensembl transcript: ENST00000498409
  gene symbol: IFT80
  hgvsc: ENST00000498409.1:c.440-23T>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420646
  ensembl transcript: ENST00000496589
  gene symbol: IFT80
  hgvsc: ENST00000496589.1:c.29-23T>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000312778
  ensembl transcript: ENST00000326448
  gene symbol: IFT80
  hgvsc: ENST00000326448.7:c.440-23T>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417861
  ensembl transcript: ENST00000486856
  gene symbol: IFT80
  hgvsc: ENST00000486856.1:c.29-23T>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000419458
  ensembl transcript: ENST00000475677
  gene symbol: IFT80
  hgvsc: ENST00000475677.1:c.29-23T>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.953-23T>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000487943
  gene symbol: IFT80
  hgvsc: ENST00000487943.1:n.1769-8597T>A
  variant of: http://identifiers.org/hgnc/29262
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1576
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7947
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12292
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3228
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1771
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9674
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/3-160083964-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160083964
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160083964
    reference: chr 3
allele count: 1
allele frequency: 8.405762991106703e-6
allele num: 118966
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417057
  ensembl transcript: ENST00000468218
  gene symbol: IFT80
  hgvsc: ENST00000468218.1:c.29-24T>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420646
  ensembl transcript: ENST00000496589
  gene symbol: IFT80
  hgvsc: ENST00000496589.1:c.29-24T>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000487943
  gene symbol: IFT80
  hgvsc: ENST00000487943.1:n.1769-8598T>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000472773
  gene symbol: IFT80
  hgvsc: ENST00000472773.1:n.564-8598T>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.953-24T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000478460
  gene symbol: IFT80
  hgvsc: ENST00000478460.1:n.257-8598T>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000312778
  ensembl transcript: ENST00000326448
  gene symbol: IFT80
  hgvsc: ENST00000326448.7:c.440-24T>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418602
  ensembl transcript: ENST00000465537
  gene symbol: IFT80
  hgvsc: ENST00000465537.1:c.29-24T>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420758
  ensembl transcript: ENST00000478370
  gene symbol: IFT80
  hgvsc: ENST00000478370.1:c.29-24T>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418196
  ensembl transcript: ENST00000483465
  gene symbol: IFT80
  hgvsc: ENST00000483465.1:c.29-24T>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000419458
  ensembl transcript: ENST00000475677
  gene symbol: IFT80
  hgvsc: ENST00000475677.1:c.29-24T>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420001
  ensembl transcript: ENST00000498409
  gene symbol: IFT80
  hgvsc: ENST00000498409.1:c.440-24T>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420260
  ensembl transcript: ENST00000484963
  gene symbol: IFT80
  hgvsc: ENST00000484963.1:c.95-24T>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417861
  ensembl transcript: ENST00000486856
  gene symbol: IFT80
  hgvsc: ENST00000486856.1:c.29-24T>G
  variant of: http://identifiers.org/hgnc/29262
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1773
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5118
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7950
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7252
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3228
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12291
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ

3-160083964-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160083964
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160083964
    reference: chr 3
allele count: 13
allele frequency: 1.092749188843871e-4
allele num: 118966
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420646
  ensembl transcript: ENST00000496589
  gene symbol: IFT80
  hgvsc: ENST00000496589.1:c.29-24T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417057
  ensembl transcript: ENST00000468218
  gene symbol: IFT80
  hgvsc: ENST00000468218.1:c.29-24T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000478460
  gene symbol: IFT80
  hgvsc: ENST00000478460.1:n.257-8598T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000419458
  ensembl transcript: ENST00000475677
  gene symbol: IFT80
  hgvsc: ENST00000475677.1:c.29-24T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418602
  ensembl transcript: ENST00000465537
  gene symbol: IFT80
  hgvsc: ENST00000465537.1:c.29-24T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417861
  ensembl transcript: ENST00000486856
  gene symbol: IFT80
  hgvsc: ENST00000486856.1:c.29-24T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000472773
  gene symbol: IFT80
  hgvsc: ENST00000472773.1:n.564-8598T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420758
  ensembl transcript: ENST00000478370
  gene symbol: IFT80
  hgvsc: ENST00000478370.1:c.29-24T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420260
  ensembl transcript: ENST00000484963
  gene symbol: IFT80
  hgvsc: ENST00000484963.1:c.95-24T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418196
  ensembl transcript: ENST00000483465
  gene symbol: IFT80
  hgvsc: ENST00000483465.1:c.29-24T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.953-24T>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000312778
  ensembl transcript: ENST00000326448
  gene symbol: IFT80
  hgvsc: ENST00000326448.7:c.440-24T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000487943
  gene symbol: IFT80
  hgvsc: ENST00000487943.1:n.1769-8598T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420001
  ensembl transcript: ENST00000498409
  gene symbol: IFT80
  hgvsc: ENST00000498409.1:c.440-24T>C
  variant of: http://identifiers.org/hgnc/29262
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5118
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12291
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7950
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum

3-160083966-AAGGCTGATAAACTTT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160083966
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160083951
    reference: chr 3
allele count: 4
allele frequency: 3.370919081087459e-5
allele num: 118662
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000487943
  gene symbol: IFT80
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417861
  ensembl transcript: ENST00000486856
  gene symbol: IFT80
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000312778
  ensembl transcript: ENST00000326448
  gene symbol: IFT80
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418196
  ensembl transcript: ENST00000483465
  gene symbol: IFT80
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000472773
  gene symbol: IFT80
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420260
  ensembl transcript: ENST00000484963
  gene symbol: IFT80
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418602
  ensembl transcript: ENST00000465537
  gene symbol: IFT80
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000478460
  gene symbol: IFT80
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420758
  ensembl transcript: ENST00000478370
  gene symbol: IFT80
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417057
  ensembl transcript: ENST00000468218
  gene symbol: IFT80
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000419458
  ensembl transcript: ENST00000475677
  gene symbol: IFT80
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420646
  ensembl transcript: ENST00000496589
  gene symbol: IFT80
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420001
  ensembl transcript: ENST00000498409
  gene symbol: IFT80
  variant of: http://identifiers.org/hgnc/29262
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9590
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5112
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3226
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12074
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1859
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7233
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7767
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: AAGGCTGATAAACTTT
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

3-160083974-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160083974
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160083974
    reference: chr 3
allele count: 2
allele frequency: 1.697821694765616e-5
allele num: 117798
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.953-34A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000419458
  ensembl transcript: ENST00000475677
  gene symbol: IFT80
  hgvsc: ENST00000475677.1:c.29-34A>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418196
  ensembl transcript: ENST00000483465
  gene symbol: IFT80
  hgvsc: ENST00000483465.1:c.29-34A>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000312778
  ensembl transcript: ENST00000326448
  gene symbol: IFT80
  hgvsc: ENST00000326448.7:c.440-34A>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417057
  ensembl transcript: ENST00000468218
  gene symbol: IFT80
  hgvsc: ENST00000468218.1:c.29-34A>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420758
  ensembl transcript: ENST00000478370
  gene symbol: IFT80
  hgvsc: ENST00000478370.1:c.29-34A>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420001
  ensembl transcript: ENST00000498409
  gene symbol: IFT80
  hgvsc: ENST00000498409.1:c.440-34A>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000478460
  gene symbol: IFT80
  hgvsc: ENST00000478460.1:n.257-8608A>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000472773
  gene symbol: IFT80
  hgvsc: ENST00000472773.1:n.564-8608A>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417861
  ensembl transcript: ENST00000486856
  gene symbol: IFT80
  hgvsc: ENST00000486856.1:c.29-34A>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420646
  ensembl transcript: ENST00000496589
  gene symbol: IFT80
  hgvsc: ENST00000496589.1:c.29-34A>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418602
  ensembl transcript: ENST00000465537
  gene symbol: IFT80
  hgvsc: ENST00000465537.1:c.29-34A>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420260
  ensembl transcript: ENST00000484963
  gene symbol: IFT80
  hgvsc: ENST00000484963.1:c.95-34A>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000487943
  gene symbol: IFT80
  hgvsc: ENST00000487943.1:n.1769-8608A>G
  variant of: http://identifiers.org/hgnc/29262
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2293
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9237
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2190
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7384
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3214
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

3-160083975-AAACTTT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160083975
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160083969
    reference: chr 3
allele count: 1
allele frequency: 8.484786777308286e-6
allele num: 117858
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000312778
  ensembl transcript: ENST00000326448
  gene symbol: IFT80
  hgvsc: ENST00000326448.7:c.440-41_440-36delAAAGTT
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420001
  ensembl transcript: ENST00000498409
  gene symbol: IFT80
  hgvsc: ENST00000498409.1:c.440-41_440-36delAAAGTT
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420758
  ensembl transcript: ENST00000478370
  gene symbol: IFT80
  hgvsc: ENST00000478370.1:c.29-41_29-36delAAAGTT
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418602
  ensembl transcript: ENST00000465537
  gene symbol: IFT80
  hgvsc: ENST00000465537.1:c.29-41_29-36delAAAGTT
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.953-41_953-36delAAAGTT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418196
  ensembl transcript: ENST00000483465
  gene symbol: IFT80
  hgvsc: ENST00000483465.1:c.29-41_29-36delAAAGTT
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417861
  ensembl transcript: ENST00000486856
  gene symbol: IFT80
  hgvsc: ENST00000486856.1:c.29-41_29-36delAAAGTT
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000478460
  gene symbol: IFT80
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000419458
  ensembl transcript: ENST00000475677
  gene symbol: IFT80
  hgvsc: ENST00000475677.1:c.29-41_29-36delAAAGTT
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417057
  ensembl transcript: ENST00000468218
  gene symbol: IFT80
  hgvsc: ENST00000468218.1:c.29-41_29-36delAAAGTT
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000472773
  gene symbol: IFT80
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420646
  ensembl transcript: ENST00000496589
  gene symbol: IFT80
  hgvsc: ENST00000496589.1:c.29-41_29-36delAAAGTT
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000487943
  gene symbol: IFT80
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420260
  ensembl transcript: ENST00000484963
  gene symbol: IFT80
  hgvsc: ENST00000484963.1:c.95-41_95-36delAAAGTT
  variant of: http://identifiers.org/hgnc/29262
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11362
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2188
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2300
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1523
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3213
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9228
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7404
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: African
population: Latino
reference allele: AAACTTT
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum

3-160083989-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160083989
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160083989
    reference: chr 3
allele count: 2
allele frequency: 1.719986240110079e-5
allele num: 116280
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417861
  ensembl transcript: ENST00000486856
  gene symbol: IFT80
  hgvsc: ENST00000486856.1:c.29-49T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.953-49T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000478460
  gene symbol: IFT80
  hgvsc: ENST00000478460.1:n.257-8623T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420758
  ensembl transcript: ENST00000478370
  gene symbol: IFT80
  hgvsc: ENST00000478370.1:c.29-49T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420646
  ensembl transcript: ENST00000496589
  gene symbol: IFT80
  hgvsc: ENST00000496589.1:c.29-49T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418196
  ensembl transcript: ENST00000483465
  gene symbol: IFT80
  hgvsc: ENST00000483465.1:c.29-49T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000472773
  gene symbol: IFT80
  hgvsc: ENST00000472773.1:n.564-8623T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420001
  ensembl transcript: ENST00000498409
  gene symbol: IFT80
  hgvsc: ENST00000498409.1:c.440-49T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000312778
  ensembl transcript: ENST00000326448
  gene symbol: IFT80
  hgvsc: ENST00000326448.7:c.440-49T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000419458
  ensembl transcript: ENST00000475677
  gene symbol: IFT80
  hgvsc: ENST00000475677.1:c.29-49T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418602
  ensembl transcript: ENST00000465537
  gene symbol: IFT80
  hgvsc: ENST00000465537.1:c.29-49T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420260
  ensembl transcript: ENST00000484963
  gene symbol: IFT80
  hgvsc: ENST00000484963.1:c.95-49T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417057
  ensembl transcript: ENST00000468218
  gene symbol: IFT80
  hgvsc: ENST00000468218.1:c.29-49T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000487943
  gene symbol: IFT80
  hgvsc: ENST00000487943.1:n.1769-8623T>C
  variant of: http://identifiers.org/hgnc/29262
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4988
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8142
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2182
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6573
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1765
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2887
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8196
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff

3-160093554-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160093554
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160093554
    reference: chr 3
allele count: 2
allele frequency: 2.066073015020351e-5
allele num: 96802
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000477495
  gene symbol: IFT80
  hgvsc: ENST00000477495.1:n.585+46C>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000312778
  ensembl transcript: ENST00000326448
  gene symbol: IFT80
  hgvsc: ENST00000326448.7:c.439+46C>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000478460
  gene symbol: IFT80
  hgvsc: ENST00000478460.1:n.256+46C>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000487943
  gene symbol: IFT80
  hgvsc: ENST00000487943.1:n.1768+46C>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420758
  ensembl transcript: ENST00000478370
  gene symbol: IFT80
  hgvsc: ENST00000478370.1:c.28+46C>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420001
  ensembl transcript: ENST00000498409
  gene symbol: IFT80
  hgvsc: ENST00000498409.1:c.439+46C>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417057
  ensembl transcript: ENST00000468218
  gene symbol: IFT80
  hgvsc: ENST00000468218.1:c.28+46C>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000419458
  ensembl transcript: ENST00000475677
  gene symbol: IFT80
  hgvsc: ENST00000475677.1:c.28+46C>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417861
  ensembl transcript: ENST00000486856
  gene symbol: IFT80
  hgvsc: ENST00000486856.1:c.28+46C>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420260
  ensembl transcript: ENST00000484963
  gene symbol: IFT80
  hgvsc: ENST00000484963.1:c.94+46C>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000472773
  gene symbol: IFT80
  hgvsc: ENST00000472773.1:n.563+46C>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.953-9614C>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420646
  ensembl transcript: ENST00000496589
  gene symbol: IFT80
  hgvsc: ENST00000496589.1:c.28+46C>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418196
  ensembl transcript: ENST00000483465
  gene symbol: IFT80
  hgvsc: ENST00000483465.1:c.28+46C>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418602
  ensembl transcript: ENST00000465537
  gene symbol: IFT80
  hgvsc: ENST00000465537.1:c.28+46C>A
  variant of: http://identifiers.org/hgnc/29262
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2458
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4313
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15852
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10428
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

3-160093556-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160093556
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160093556
    reference: chr 3
allele count: 22
allele frequency: 2.264399522417555e-4
allele num: 97156
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420758
  ensembl transcript: ENST00000478370
  gene symbol: IFT80
  hgvsc: ENST00000478370.1:c.28+44T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000487943
  gene symbol: IFT80
  hgvsc: ENST00000487943.1:n.1768+44T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000478460
  gene symbol: IFT80
  hgvsc: ENST00000478460.1:n.256+44T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418196
  ensembl transcript: ENST00000483465
  gene symbol: IFT80
  hgvsc: ENST00000483465.1:c.28+44T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418602
  ensembl transcript: ENST00000465537
  gene symbol: IFT80
  hgvsc: ENST00000465537.1:c.28+44T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417057
  ensembl transcript: ENST00000468218
  gene symbol: IFT80
  hgvsc: ENST00000468218.1:c.28+44T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420646
  ensembl transcript: ENST00000496589
  gene symbol: IFT80
  hgvsc: ENST00000496589.1:c.28+44T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420001
  ensembl transcript: ENST00000498409
  gene symbol: IFT80
  hgvsc: ENST00000498409.1:c.439+44T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417861
  ensembl transcript: ENST00000486856
  gene symbol: IFT80
  hgvsc: ENST00000486856.1:c.28+44T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000419458
  ensembl transcript: ENST00000475677
  gene symbol: IFT80
  hgvsc: ENST00000475677.1:c.28+44T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000477495
  gene symbol: IFT80
  hgvsc: ENST00000477495.1:n.585+44T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000472773
  gene symbol: IFT80
  hgvsc: ENST00000472773.1:n.563+44T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.953-9616T>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420260
  ensembl transcript: ENST00000484963
  gene symbol: IFT80
  hgvsc: ENST00000484963.1:c.94+44T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000312778
  ensembl transcript: ENST00000326448
  gene symbol: IFT80
  hgvsc: ENST00000326448.7:c.439+44T>C
  variant of: http://identifiers.org/hgnc/29262
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15741
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9807
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4397
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10448
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2463
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

3-160093557-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160093557
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160093557
    reference: chr 3
allele count: 1
allele frequency: 1.027749229188078e-5
allele num: 97300
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417057
  ensembl transcript: ENST00000468218
  gene symbol: IFT80
  hgvsc: ENST00000468218.1:c.28+43A>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420260
  ensembl transcript: ENST00000484963
  gene symbol: IFT80
  hgvsc: ENST00000484963.1:c.94+43A>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420646
  ensembl transcript: ENST00000496589
  gene symbol: IFT80
  hgvsc: ENST00000496589.1:c.28+43A>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417861
  ensembl transcript: ENST00000486856
  gene symbol: IFT80
  hgvsc: ENST00000486856.1:c.28+43A>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000487943
  gene symbol: IFT80
  hgvsc: ENST00000487943.1:n.1768+43A>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420758
  ensembl transcript: ENST00000478370
  gene symbol: IFT80
  hgvsc: ENST00000478370.1:c.28+43A>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418196
  ensembl transcript: ENST00000483465
  gene symbol: IFT80
  hgvsc: ENST00000483465.1:c.28+43A>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000477495
  gene symbol: IFT80
  hgvsc: ENST00000477495.1:n.585+43A>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000419458
  ensembl transcript: ENST00000475677
  gene symbol: IFT80
  hgvsc: ENST00000475677.1:c.28+43A>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000478460
  gene symbol: IFT80
  hgvsc: ENST00000478460.1:n.256+43A>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.953-9617A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420001
  ensembl transcript: ENST00000498409
  gene symbol: IFT80
  hgvsc: ENST00000498409.1:c.439+43A>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418602
  ensembl transcript: ENST00000465537
  gene symbol: IFT80
  hgvsc: ENST00000465537.1:c.28+43A>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000472773
  gene symbol: IFT80
  hgvsc: ENST00000472773.1:n.563+43A>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000312778
  ensembl transcript: ENST00000326448
  gene symbol: IFT80
  hgvsc: ENST00000326448.7:c.439+43A>G
  variant of: http://identifiers.org/hgnc/29262
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10318
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8787
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2464
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10452
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4437
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum

3-160093558-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160093558
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160093558
    reference: chr 3
allele count: 1
allele frequency: 1.0275380189067e-5
allele num: 97320
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420758
  ensembl transcript: ENST00000478370
  gene symbol: IFT80
  hgvsc: ENST00000478370.1:c.28+42A>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000487943
  gene symbol: IFT80
  hgvsc: ENST00000487943.1:n.1768+42A>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000312778
  ensembl transcript: ENST00000326448
  gene symbol: IFT80
  hgvsc: ENST00000326448.7:c.439+42A>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000477495
  gene symbol: IFT80
  hgvsc: ENST00000477495.1:n.585+42A>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000472773
  gene symbol: IFT80
  hgvsc: ENST00000472773.1:n.563+42A>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420646
  ensembl transcript: ENST00000496589
  gene symbol: IFT80
  hgvsc: ENST00000496589.1:c.28+42A>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420260
  ensembl transcript: ENST00000484963
  gene symbol: IFT80
  hgvsc: ENST00000484963.1:c.94+42A>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000478460
  gene symbol: IFT80
  hgvsc: ENST00000478460.1:n.256+42A>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417861
  ensembl transcript: ENST00000486856
  gene symbol: IFT80
  hgvsc: ENST00000486856.1:c.28+42A>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417057
  ensembl transcript: ENST00000468218
  gene symbol: IFT80
  hgvsc: ENST00000468218.1:c.28+42A>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418196
  ensembl transcript: ENST00000483465
  gene symbol: IFT80
  hgvsc: ENST00000483465.1:c.28+42A>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418602
  ensembl transcript: ENST00000465537
  gene symbol: IFT80
  hgvsc: ENST00000465537.1:c.28+42A>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420001
  ensembl transcript: ENST00000498409
  gene symbol: IFT80
  hgvsc: ENST00000498409.1:c.439+42A>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000419458
  ensembl transcript: ENST00000475677
  gene symbol: IFT80
  hgvsc: ENST00000475677.1:c.28+42A>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.953-9618A>G
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8195
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15552
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10450
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4489
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11020
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2470
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

3-160093570-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160093570
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160093570
    reference: chr 3
allele count: 5
allele frequency: 5.036768409388536e-5
allele num: 99270
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000312778
  ensembl transcript: ENST00000326448
  gene symbol: IFT80
  hgvsc: ENST00000326448.7:c.439+30T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000478460
  gene symbol: IFT80
  hgvsc: ENST00000478460.1:n.256+30T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417057
  ensembl transcript: ENST00000468218
  gene symbol: IFT80
  hgvsc: ENST00000468218.1:c.28+30T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.953-9630T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418602
  ensembl transcript: ENST00000465537
  gene symbol: IFT80
  hgvsc: ENST00000465537.1:c.28+30T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000472773
  gene symbol: IFT80
  hgvsc: ENST00000472773.1:n.563+30T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000419458
  ensembl transcript: ENST00000475677
  gene symbol: IFT80
  hgvsc: ENST00000475677.1:c.28+30T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417861
  ensembl transcript: ENST00000486856
  gene symbol: IFT80
  hgvsc: ENST00000486856.1:c.28+30T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000487943
  gene symbol: IFT80
  hgvsc: ENST00000487943.1:n.1768+30T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418196
  ensembl transcript: ENST00000483465
  gene symbol: IFT80
  hgvsc: ENST00000483465.1:c.28+30T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420646
  ensembl transcript: ENST00000496589
  gene symbol: IFT80
  hgvsc: ENST00000496589.1:c.28+30T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420758
  ensembl transcript: ENST00000478370
  gene symbol: IFT80
  hgvsc: ENST00000478370.1:c.28+30T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420001
  ensembl transcript: ENST00000498409
  gene symbol: IFT80
  hgvsc: ENST00000498409.1:c.439+30T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000477495
  gene symbol: IFT80
  hgvsc: ENST00000477495.1:n.585+30T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420260
  ensembl transcript: ENST00000484963
  gene symbol: IFT80
  hgvsc: ENST00000484963.1:c.94+30T>C
  variant of: http://identifiers.org/hgnc/29262
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5433
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10134
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11042
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2632
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2770
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

3-160093579-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160093579
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160093579
    reference: chr 3
allele count: 2
allele frequency: 1.963980595871713e-5
allele num: 101834
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000477495
  gene symbol: IFT80
  hgvsc: ENST00000477495.1:n.585+21T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417057
  ensembl transcript: ENST00000468218
  gene symbol: IFT80
  hgvsc: ENST00000468218.1:c.28+21T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420260
  ensembl transcript: ENST00000484963
  gene symbol: IFT80
  hgvsc: ENST00000484963.1:c.94+21T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420758
  ensembl transcript: ENST00000478370
  gene symbol: IFT80
  hgvsc: ENST00000478370.1:c.28+21T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000312778
  ensembl transcript: ENST00000326448
  gene symbol: IFT80
  hgvsc: ENST00000326448.7:c.439+21T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418602
  ensembl transcript: ENST00000465537
  gene symbol: IFT80
  hgvsc: ENST00000465537.1:c.28+21T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000472773
  gene symbol: IFT80
  hgvsc: ENST00000472773.1:n.563+21T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.953-9639T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000419458
  ensembl transcript: ENST00000475677
  gene symbol: IFT80
  hgvsc: ENST00000475677.1:c.28+21T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420646
  ensembl transcript: ENST00000496589
  gene symbol: IFT80
  hgvsc: ENST00000496589.1:c.28+21T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417861
  ensembl transcript: ENST00000486856
  gene symbol: IFT80
  hgvsc: ENST00000486856.1:c.28+21T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418196
  ensembl transcript: ENST00000483465
  gene symbol: IFT80
  hgvsc: ENST00000483465.1:c.28+21T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000487943
  gene symbol: IFT80
  hgvsc: ENST00000487943.1:n.1768+21T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000478460
  gene symbol: IFT80
  hgvsc: ENST00000478460.1:n.256+21T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420001
  ensembl transcript: ENST00000498409
  gene symbol: IFT80
  hgvsc: ENST00000498409.1:c.439+21T>C
  variant of: http://identifiers.org/hgnc/29262
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9204
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7376
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1919
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6146
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2748
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum

3-160093581-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160093581
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160093581
    reference: chr 3
allele count: 1
allele frequency: 9.7551458394303e-6
allele num: 102510
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000487943
  gene symbol: IFT80
  hgvsc: ENST00000487943.1:n.1768+19A>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418196
  ensembl transcript: ENST00000483465
  gene symbol: IFT80
  hgvsc: ENST00000483465.1:c.28+19A>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.953-9641A>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000419458
  ensembl transcript: ENST00000475677
  gene symbol: IFT80
  hgvsc: ENST00000475677.1:c.28+19A>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420758
  ensembl transcript: ENST00000478370
  gene symbol: IFT80
  hgvsc: ENST00000478370.1:c.28+19A>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000478460
  gene symbol: IFT80
  hgvsc: ENST00000478460.1:n.256+19A>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417057
  ensembl transcript: ENST00000468218
  gene symbol: IFT80
  hgvsc: ENST00000468218.1:c.28+19A>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417861
  ensembl transcript: ENST00000486856
  gene symbol: IFT80
  hgvsc: ENST00000486856.1:c.28+19A>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000312778
  ensembl transcript: ENST00000326448
  gene symbol: IFT80
  hgvsc: ENST00000326448.7:c.439+19A>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420646
  ensembl transcript: ENST00000496589
  gene symbol: IFT80
  hgvsc: ENST00000496589.1:c.28+19A>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420001
  ensembl transcript: ENST00000498409
  gene symbol: IFT80
  hgvsc: ENST00000498409.1:c.439+19A>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000477495
  gene symbol: IFT80
  hgvsc: ENST00000477495.1:n.585+19A>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418602
  ensembl transcript: ENST00000465537
  gene symbol: IFT80
  hgvsc: ENST00000465537.1:c.28+19A>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000472773
  gene symbol: IFT80
  hgvsc: ENST00000472773.1:n.563+19A>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420260
  ensembl transcript: ENST00000484963
  gene symbol: IFT80
  hgvsc: ENST00000484963.1:c.94+19A>C
  variant of: http://identifiers.org/hgnc/29262
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6295
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27021
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1920
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2756
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6695
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

3-160093595-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160093595
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160093595
    reference: chr 3
allele count: 1
allele frequency: 9.285913269570063e-6
allele num: 107690
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417057
  ensembl transcript: ENST00000468218
  gene symbol: IFT80
  hgvsc: ENST00000468218.1:c.28+5G>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000419458
  ensembl transcript: ENST00000475677
  gene symbol: IFT80
  hgvsc: ENST00000475677.1:c.28+5G>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420001
  ensembl transcript: ENST00000498409
  gene symbol: IFT80
  hgvsc: ENST00000498409.1:c.439+5G>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000478460
  gene symbol: IFT80
  hgvsc: ENST00000478460.1:n.256+5G>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420646
  ensembl transcript: ENST00000496589
  gene symbol: IFT80
  hgvsc: ENST00000496589.1:c.28+5G>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000487943
  gene symbol: IFT80
  hgvsc: ENST00000487943.1:n.1768+5G>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000312778
  ensembl transcript: ENST00000326448
  gene symbol: IFT80
  hgvsc: ENST00000326448.7:c.439+5G>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418196
  ensembl transcript: ENST00000483465
  gene symbol: IFT80
  hgvsc: ENST00000483465.1:c.28+5G>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417861
  ensembl transcript: ENST00000486856
  gene symbol: IFT80
  hgvsc: ENST00000486856.1:c.28+5G>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420260
  ensembl transcript: ENST00000484963
  gene symbol: IFT80
  hgvsc: ENST00000484963.1:c.94+5G>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418602
  ensembl transcript: ENST00000465537
  gene symbol: IFT80
  hgvsc: ENST00000465537.1:c.28+5G>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000477495
  gene symbol: IFT80
  hgvsc: ENST00000477495.1:n.585+5G>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000472773
  gene symbol: IFT80
  hgvsc: ENST00000472773.1:n.563+5G>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420758
  ensembl transcript: ENST00000478370
  gene symbol: IFT80
  hgvsc: ENST00000478370.1:c.28+5G>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.953-9655G>A
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6548
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7414
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2925
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.439+5G>A
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

3-160093600-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160093600
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160093600
    reference: chr 3
allele count: 5
allele frequency: 4.568379504422191e-5
allele num: 109448
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.953-9660G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417057
  ensembl transcript: ENST00000468218
  gene symbol: IFT80
  hgvsc: ENST00000468218.1:c.28G>A
  hgvsp: ENSP00000417057.1:p.Gly10Arg
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000487943
  gene symbol: IFT80
  hgvsc: ENST00000487943.1:n.1768G>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418602
  ensembl transcript: ENST00000465537
  gene symbol: IFT80
  hgvsc: ENST00000465537.1:c.28G>A
  hgvsp: ENSP00000418602.1:p.Gly10Arg
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418196
  ensembl transcript: ENST00000483465
  gene symbol: IFT80
  hgvsc: ENST00000483465.1:c.28G>A
  hgvsp: ENSP00000418196.1:p.Gly10Arg
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420001
  ensembl transcript: ENST00000498409
  gene symbol: IFT80
  hgvsc: ENST00000498409.1:c.439G>A
  hgvsp: ENSP00000420001.1:p.Gly147Arg
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420646
  ensembl transcript: ENST00000496589
  gene symbol: IFT80
  hgvsc: ENST00000496589.1:c.28G>A
  hgvsp: ENSP00000420646.1:p.Gly10Arg
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000419458
  ensembl transcript: ENST00000475677
  gene symbol: IFT80
  hgvsc: ENST00000475677.1:c.28G>A
  hgvsp: ENSP00000419458.1:p.Gly10Arg
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000477495
  gene symbol: IFT80
  hgvsc: ENST00000477495.1:n.585G>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000472773
  gene symbol: IFT80
  hgvsc: ENST00000472773.1:n.563G>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420758
  ensembl transcript: ENST00000478370
  gene symbol: IFT80
  hgvsc: ENST00000478370.1:c.28G>A
  hgvsp: ENSP00000420758.1:p.Gly10Arg
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000312778
  ensembl transcript: ENST00000326448
  gene symbol: IFT80
  hgvsc: ENST00000326448.7:c.439G>A
  hgvsp: ENSP00000312778.7:p.Gly147Arg
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420260
  ensembl transcript: ENST00000484963
  gene symbol: IFT80
  hgvsc: ENST00000484963.1:c.94G>A
  hgvsp: ENSP00000420260.1:p.Gly32Arg
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417861
  ensembl transcript: ENST00000486856
  gene symbol: IFT80
  hgvsc: ENST00000486856.1:c.28G>A
  hgvsp: ENSP00000417861.1:p.Gly10Arg
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000478460
  gene symbol: IFT80
  hgvsc: ENST00000478460.1:n.256G>A
  variant of: http://identifiers.org/hgnc/29262
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2979
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2508
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33646
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly147Arg
num of homozygotes: 2
population: Other
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ClippingRankSum

3-160093606-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160093606
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160093606
    reference: chr 3
allele count: 1
allele frequency: 8.956560680698611e-6
allele num: 111650
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420758
  ensembl transcript: ENST00000478370
  gene symbol: IFT80
  hgvsc: ENST00000478370.1:c.22C>T
  hgvsp: ENSP00000420758.1:p.Gln8Ter
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418602
  ensembl transcript: ENST00000465537
  gene symbol: IFT80
  hgvsc: ENST00000465537.1:c.22C>T
  hgvsp: ENSP00000418602.1:p.Gln8Ter
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418196
  ensembl transcript: ENST00000483465
  gene symbol: IFT80
  hgvsc: ENST00000483465.1:c.22C>T
  hgvsp: ENSP00000418196.1:p.Gln8Ter
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000312778
  ensembl transcript: ENST00000326448
  gene symbol: IFT80
  hgvsc: ENST00000326448.7:c.433C>T
  hgvsp: ENSP00000312778.7:p.Gln145Ter
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.953-9666C>T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420001
  ensembl transcript: ENST00000498409
  gene symbol: IFT80
  hgvsc: ENST00000498409.1:c.433C>T
  hgvsp: ENSP00000420001.1:p.Gln145Ter
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420260
  ensembl transcript: ENST00000484963
  gene symbol: IFT80
  hgvsc: ENST00000484963.1:c.88C>T
  hgvsp: ENSP00000420260.1:p.Gln30Ter
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417057
  ensembl transcript: ENST00000468218
  gene symbol: IFT80
  hgvsc: ENST00000468218.1:c.22C>T
  hgvsp: ENSP00000417057.1:p.Gln8Ter
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000487943
  gene symbol: IFT80
  hgvsc: ENST00000487943.1:n.1762C>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000477495
  gene symbol: IFT80
  hgvsc: ENST00000477495.1:n.579C>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000472773
  gene symbol: IFT80
  hgvsc: ENST00000472773.1:n.557C>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417861
  ensembl transcript: ENST00000486856
  gene symbol: IFT80
  hgvsc: ENST00000486856.1:c.22C>T
  hgvsp: ENSP00000417861.1:p.Gln8Ter
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000419458
  ensembl transcript: ENST00000475677
  gene symbol: IFT80
  hgvsc: ENST00000475677.1:c.22C>T
  hgvsp: ENSP00000419458.1:p.Gln8Ter
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000478460
  gene symbol: IFT80
  hgvsc: ENST00000478460.1:n.250C>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420646
  ensembl transcript: ENST00000496589
  gene symbol: IFT80
  hgvsc: ENST00000496589.1:c.22C>T
  hgvsp: ENSP00000420646.1:p.Gln8Ter
  variant of: http://identifiers.org/hgnc/29262
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8196
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3024
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35237
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4657
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln145Ter
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/3-160093622-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160093622
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160093622
    reference: chr 3
allele count: 1
allele frequency: 8.788427398801258e-6
allele num: 113786
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420001
  ensembl transcript: ENST00000498409
  gene symbol: IFT80
  hgvsc: ENST00000498409.1:c.417T>G
  hgvsp: ENST00000498409.1:c.417T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417861
  ensembl transcript: ENST00000486856
  gene symbol: IFT80
  hgvsc: ENST00000486856.1:c.6T>G
  hgvsp: ENST00000486856.1:c.6T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000478460
  gene symbol: IFT80
  hgvsc: ENST00000478460.1:n.234T>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000487943
  gene symbol: IFT80
  hgvsc: ENST00000487943.1:n.1746T>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420260
  ensembl transcript: ENST00000484963
  gene symbol: IFT80
  hgvsc: ENST00000484963.1:c.72T>G
  hgvsp: ENST00000484963.1:c.72T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000312778
  ensembl transcript: ENST00000326448
  gene symbol: IFT80
  hgvsc: ENST00000326448.7:c.417T>G
  hgvsp: ENST00000326448.7:c.417T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420758
  ensembl transcript: ENST00000478370
  gene symbol: IFT80
  hgvsc: ENST00000478370.1:c.6T>G
  hgvsp: ENST00000478370.1:c.6T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418196
  ensembl transcript: ENST00000483465
  gene symbol: IFT80
  hgvsc: ENST00000483465.1:c.6T>G
  hgvsp: ENST00000483465.1:c.6T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418602
  ensembl transcript: ENST00000465537
  gene symbol: IFT80
  hgvsc: ENST00000465537.1:c.6T>G
  hgvsp: ENST00000465537.1:c.6T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000477495
  gene symbol: IFT80
  hgvsc: ENST00000477495.1:n.563T>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418497
  ensembl transcript: ENST00000482317
  gene symbol: IFT80
  hgvsc: ENST00000482317.1:c.*154T>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000419458
  ensembl transcript: ENST00000475677
  gene symbol: IFT80
  hgvsc: ENST00000475677.1:c.6T>G
  hgvsp: ENST00000475677.1:c.6T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420646
  ensembl transcript: ENST00000496589
  gene symbol: IFT80
  hgvsc: ENST00000496589.1:c.6T>G
  hgvsp: ENST00000496589.1:c.6T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.953-9682T>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417057
  ensembl transcript: ENST00000468218
  gene symbol: IFT80
  hgvsc: ENST00000468218.1:c.6T>G
  hgvsp: ENST00000468218.1:c.6T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000472773
  gene symbol: IFT80
  hgvsc: ENST00000472773.1:n.541T>G
  variant of: http://identifiers.org/hgnc/29262
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36017
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1938
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3632
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu139Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: African
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum

3-160093627-T-TC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160093627
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160093628
    reference: chr 3
allele count: 1
allele frequency: 8.767469182345825e-6
allele num: 114058
alternate allele: TC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000478460
  gene symbol: IFT80
  hgvsc: ENST00000478460.1:n.228dupG
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.953-9688dupG
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420260
  ensembl transcript: ENST00000484963
  gene symbol: IFT80
  hgvsc: ENST00000484963.1:c.66dupG
  hgvsp: ENSP00000420260.1:p.Met23AspfsTer3
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418497
  ensembl transcript: ENST00000482317
  gene symbol: IFT80
  hgvsc: ENST00000482317.1:c.*148dupG
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420758
  ensembl transcript: ENST00000478370
  gene symbol: IFT80
  hgvsc: ENST00000478370.1:c.-1dupG
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000419458
  ensembl transcript: ENST00000475677
  gene symbol: IFT80
  hgvsc: ENST00000475677.1:c.-1dupG
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000477495
  gene symbol: IFT80
  hgvsc: ENST00000477495.1:n.557dupG
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420001
  ensembl transcript: ENST00000498409
  gene symbol: IFT80
  hgvsc: ENST00000498409.1:c.411dupG
  hgvsp: ENSP00000420001.1:p.Met138AspfsTer3
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000487943
  gene symbol: IFT80
  hgvsc: ENST00000487943.1:n.1740dupG
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417057
  ensembl transcript: ENST00000468218
  gene symbol: IFT80
  hgvsc: ENST00000468218.1:c.-1dupG
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418602
  ensembl transcript: ENST00000465537
  gene symbol: IFT80
  hgvsc: ENST00000465537.1:c.-1dupG
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420646
  ensembl transcript: ENST00000496589
  gene symbol: IFT80
  hgvsc: ENST00000496589.1:c.-1dupG
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000312778
  ensembl transcript: ENST00000326448
  gene symbol: IFT80
  hgvsc: ENST00000326448.7:c.411dupG
  hgvsp: ENSP00000312778.7:p.Met138AspfsTer3
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417861
  ensembl transcript: ENST00000486856
  gene symbol: IFT80
  hgvsc: ENST00000486856.1:c.-1dupG
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418196
  ensembl transcript: ENST00000483465
  gene symbol: IFT80
  hgvsc: ENST00000483465.1:c.-1dupG
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000472773
  gene symbol: IFT80
  hgvsc: ENST00000472773.1:n.535dupG
  variant of: http://identifiers.org/hgnc/29262
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 3502
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8990
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met138AspfsTer3
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: African
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS

3-160093629-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160093629
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160093629
    reference: chr 3
allele count: 2
allele frequency: 1.752510471250066e-5
allele num: 114122
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418196
  ensembl transcript: ENST00000483465
  gene symbol: IFT80
  hgvsc: ENST00000483465.1:c.-2G>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000478460
  gene symbol: IFT80
  hgvsc: ENST00000478460.1:n.227G>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000472773
  gene symbol: IFT80
  hgvsc: ENST00000472773.1:n.534G>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418497
  ensembl transcript: ENST00000482317
  gene symbol: IFT80
  hgvsc: ENST00000482317.1:c.*147G>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417057
  ensembl transcript: ENST00000468218
  gene symbol: IFT80
  hgvsc: ENST00000468218.1:c.-2G>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420260
  ensembl transcript: ENST00000484963
  gene symbol: IFT80
  hgvsc: ENST00000484963.1:c.65G>A
  hgvsp: ENSP00000420260.1:p.Gly22Glu
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000419458
  ensembl transcript: ENST00000475677
  gene symbol: IFT80
  hgvsc: ENST00000475677.1:c.-2G>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.953-9689G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420001
  ensembl transcript: ENST00000498409
  gene symbol: IFT80
  hgvsc: ENST00000498409.1:c.410G>A
  hgvsp: ENSP00000420001.1:p.Gly137Glu
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000312778
  ensembl transcript: ENST00000326448
  gene symbol: IFT80
  hgvsc: ENST00000326448.7:c.410G>A
  hgvsp: ENSP00000312778.7:p.Gly137Glu
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417861
  ensembl transcript: ENST00000486856
  gene symbol: IFT80
  hgvsc: ENST00000486856.1:c.-2G>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420646
  ensembl transcript: ENST00000496589
  gene symbol: IFT80
  hgvsc: ENST00000496589.1:c.-2G>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000487943
  gene symbol: IFT80
  hgvsc: ENST00000487943.1:n.1739G>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418602
  ensembl transcript: ENST00000465537
  gene symbol: IFT80
  hgvsc: ENST00000465537.1:c.-2G>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420758
  ensembl transcript: ENST00000478370
  gene symbol: IFT80
  hgvsc: ENST00000478370.1:c.-2G>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000477495
  gene symbol: IFT80
  hgvsc: ENST00000477495.1:n.556G>A
  variant of: http://identifiers.org/hgnc/29262
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1371
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3449
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3119
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly137Glu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum

3-160093632-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160093632
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160093632
    reference: chr 3
allele count: 1
allele frequency: 8.757641041808978e-6
allele num: 114186
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420001
  ensembl transcript: ENST00000498409
  gene symbol: IFT80
  hgvsc: ENST00000498409.1:c.407C>T
  hgvsp: ENSP00000420001.1:p.Thr136Ile
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418602
  ensembl transcript: ENST00000465537
  gene symbol: IFT80
  hgvsc: ENST00000465537.1:c.-5C>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420260
  ensembl transcript: ENST00000484963
  gene symbol: IFT80
  hgvsc: ENST00000484963.1:c.62C>T
  hgvsp: ENSP00000420260.1:p.Thr21Ile
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000487943
  gene symbol: IFT80
  hgvsc: ENST00000487943.1:n.1736C>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417057
  ensembl transcript: ENST00000468218
  gene symbol: IFT80
  hgvsc: ENST00000468218.1:c.-5C>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418497
  ensembl transcript: ENST00000482317
  gene symbol: IFT80
  hgvsc: ENST00000482317.1:c.*144C>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417861
  ensembl transcript: ENST00000486856
  gene symbol: IFT80
  hgvsc: ENST00000486856.1:c.-5C>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420646
  ensembl transcript: ENST00000496589
  gene symbol: IFT80
  hgvsc: ENST00000496589.1:c.-5C>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000312778
  ensembl transcript: ENST00000326448
  gene symbol: IFT80
  hgvsc: ENST00000326448.7:c.407C>T
  hgvsp: ENSP00000312778.7:p.Thr136Ile
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000477495
  gene symbol: IFT80
  hgvsc: ENST00000477495.1:n.553C>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000419458
  ensembl transcript: ENST00000475677
  gene symbol: IFT80
  hgvsc: ENST00000475677.1:c.-5C>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000478460
  gene symbol: IFT80
  hgvsc: ENST00000478460.1:n.224C>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000472773
  gene symbol: IFT80
  hgvsc: ENST00000472773.1:n.531C>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420758
  ensembl transcript: ENST00000478370
  gene symbol: IFT80
  hgvsc: ENST00000478370.1:c.-5C>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418196
  ensembl transcript: ENST00000483465
  gene symbol: IFT80
  hgvsc: ENST00000483465.1:c.-5C>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.953-9692C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1937
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3106
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr136Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

3-160093636-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160093636
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160093636
    reference: chr 3
allele count: 11
allele frequency: 9.645230871753503e-5
allele num: 114046
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420260
  ensembl transcript: ENST00000484963
  gene symbol: IFT80
  hgvsc: ENST00000484963.1:c.58A>C
  hgvsp: ENSP00000420260.1:p.Lys20Gln
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418196
  ensembl transcript: ENST00000483465
  gene symbol: IFT80
  hgvsc: ENST00000483465.1:c.-9A>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420646
  ensembl transcript: ENST00000496589
  gene symbol: IFT80
  hgvsc: ENST00000496589.1:c.-9A>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000477495
  gene symbol: IFT80
  hgvsc: ENST00000477495.1:n.549A>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417057
  ensembl transcript: ENST00000468218
  gene symbol: IFT80
  hgvsc: ENST00000468218.1:c.-9A>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000419458
  ensembl transcript: ENST00000475677
  gene symbol: IFT80
  hgvsc: ENST00000475677.1:c.-9A>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000472773
  gene symbol: IFT80
  hgvsc: ENST00000472773.1:n.527A>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000312778
  ensembl transcript: ENST00000326448
  gene symbol: IFT80
  hgvsc: ENST00000326448.7:c.403A>C
  hgvsp: ENSP00000312778.7:p.Lys135Gln
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420001
  ensembl transcript: ENST00000498409
  gene symbol: IFT80
  hgvsc: ENST00000498409.1:c.403A>C
  hgvsp: ENSP00000420001.1:p.Lys135Gln
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417861
  ensembl transcript: ENST00000486856
  gene symbol: IFT80
  hgvsc: ENST00000486856.1:c.-9A>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.953-9696A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000478460
  gene symbol: IFT80
  hgvsc: ENST00000478460.1:n.220A>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420758
  ensembl transcript: ENST00000478370
  gene symbol: IFT80
  hgvsc: ENST00000478370.1:c.-9A>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418497
  ensembl transcript: ENST00000482317
  gene symbol: IFT80
  hgvsc: ENST00000482317.1:c.*140A>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000487943
  gene symbol: IFT80
  hgvsc: ENST00000487943.1:n.1732A>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418602
  ensembl transcript: ENST00000465537
  gene symbol: IFT80
  hgvsc: ENST00000465537.1:c.-9A>C
  variant of: http://identifiers.org/hgnc/29262
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1709
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3097
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3503
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys135Gln
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ClippingRankSum

3-160093643-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160093643
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160093643
    reference: chr 3
allele count: 1
allele frequency: 8.78966335589347e-6
allele num: 113770
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420001
  ensembl transcript: ENST00000498409
  gene symbol: IFT80
  hgvsc: ENST00000498409.1:c.396T>C
  hgvsp: ENST00000498409.1:c.396T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418497
  ensembl transcript: ENST00000482317
  gene symbol: IFT80
  hgvsc: ENST00000482317.1:c.*133T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000487943
  gene symbol: IFT80
  hgvsc: ENST00000487943.1:n.1725T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420260
  ensembl transcript: ENST00000484963
  gene symbol: IFT80
  hgvsc: ENST00000484963.1:c.51T>C
  hgvsp: ENST00000484963.1:c.51T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418196
  ensembl transcript: ENST00000483465
  gene symbol: IFT80
  hgvsc: ENST00000483465.1:c.-16T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420646
  ensembl transcript: ENST00000496589
  gene symbol: IFT80
  hgvsc: ENST00000496589.1:c.-16T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000477495
  gene symbol: IFT80
  hgvsc: ENST00000477495.1:n.542T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417057
  ensembl transcript: ENST00000468218
  gene symbol: IFT80
  hgvsc: ENST00000468218.1:c.-16T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000419458
  ensembl transcript: ENST00000475677
  gene symbol: IFT80
  hgvsc: ENST00000475677.1:c.-16T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000478460
  gene symbol: IFT80
  hgvsc: ENST00000478460.1:n.213T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417861
  ensembl transcript: ENST00000486856
  gene symbol: IFT80
  hgvsc: ENST00000486856.1:c.-16T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000312778
  ensembl transcript: ENST00000326448
  gene symbol: IFT80
  hgvsc: ENST00000326448.7:c.396T>C
  hgvsp: ENST00000326448.7:c.396T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.953-9703T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000472773
  gene symbol: IFT80
  hgvsc: ENST00000472773.1:n.520T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418602
  ensembl transcript: ENST00000465537
  gene symbol: IFT80
  hgvsc: ENST00000465537.1:c.-16T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420758
  ensembl transcript: ENST00000478370
  gene symbol: IFT80
  hgvsc: ENST00000478370.1:c.-16T>C
  variant of: http://identifiers.org/hgnc/29262
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2068
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9416
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3622
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1938
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3083
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile132Ile
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

3-160093645-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160093645
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160093645
    reference: chr 3
allele count: 7
allele frequency: 6.171642185819329e-5
allele num: 113422
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000478460
  gene symbol: IFT80
  hgvsc: ENST00000478460.1:n.211A>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418602
  ensembl transcript: ENST00000465537
  gene symbol: IFT80
  hgvsc: ENST00000465537.1:c.-18A>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000419458
  ensembl transcript: ENST00000475677
  gene symbol: IFT80
  hgvsc: ENST00000475677.1:c.-18A>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000312778
  ensembl transcript: ENST00000326448
  gene symbol: IFT80
  hgvsc: ENST00000326448.7:c.394A>C
  hgvsp: ENSP00000312778.7:p.Ile132Leu
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000487943
  gene symbol: IFT80
  hgvsc: ENST00000487943.1:n.1723A>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418497
  ensembl transcript: ENST00000482317
  gene symbol: IFT80
  hgvsc: ENST00000482317.1:c.*131A>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420646
  ensembl transcript: ENST00000496589
  gene symbol: IFT80
  hgvsc: ENST00000496589.1:c.-18A>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417057
  ensembl transcript: ENST00000468218
  gene symbol: IFT80
  hgvsc: ENST00000468218.1:c.-18A>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417861
  ensembl transcript: ENST00000486856
  gene symbol: IFT80
  hgvsc: ENST00000486856.1:c.-18A>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420260
  ensembl transcript: ENST00000484963
  gene symbol: IFT80
  hgvsc: ENST00000484963.1:c.49A>C
  hgvsp: ENSP00000420260.1:p.Ile17Leu
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.953-9705A>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420001
  ensembl transcript: ENST00000498409
  gene symbol: IFT80
  hgvsc: ENST00000498409.1:c.394A>C
  hgvsp: ENSP00000420001.1:p.Ile132Leu
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420758
  ensembl transcript: ENST00000478370
  gene symbol: IFT80
  hgvsc: ENST00000478370.1:c.-18A>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000472773
  gene symbol: IFT80
  hgvsc: ENST00000472773.1:n.518A>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000477495
  gene symbol: IFT80
  hgvsc: ENST00000477495.1:n.540A>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418196
  ensembl transcript: ENST00000483465
  gene symbol: IFT80
  hgvsc: ENST00000483465.1:c.-18A>C
  variant of: http://identifiers.org/hgnc/29262
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3101
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9425
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2359
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1942
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33801
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3766
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile132Leu
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

3-160093662-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160093662
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160093662
    reference: chr 3
allele count: 2
allele frequency: 1.810315175872119e-5
allele num: 110478
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417861
  ensembl transcript: ENST00000486856
  gene symbol: IFT80
  hgvsc: ENST00000486856.1:c.-35A>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.953-9722A>C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418602
  ensembl transcript: ENST00000465537
  gene symbol: IFT80
  hgvsc: ENST00000465537.1:c.-35A>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000472773
  gene symbol: IFT80
  hgvsc: ENST00000472773.1:n.501A>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000312778
  ensembl transcript: ENST00000326448
  gene symbol: IFT80
  hgvsc: ENST00000326448.7:c.377A>C
  hgvsp: ENSP00000312778.7:p.Glu126Ala
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417057
  ensembl transcript: ENST00000468218
  gene symbol: IFT80
  hgvsc: ENST00000468218.1:c.-35A>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420001
  ensembl transcript: ENST00000498409
  gene symbol: IFT80
  hgvsc: ENST00000498409.1:c.377A>C
  hgvsp: ENSP00000420001.1:p.Glu126Ala
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000478460
  gene symbol: IFT80
  hgvsc: ENST00000478460.1:n.194A>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420260
  ensembl transcript: ENST00000484963
  gene symbol: IFT80
  hgvsc: ENST00000484963.1:c.32A>C
  hgvsp: ENSP00000420260.1:p.Glu11Ala
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418196
  ensembl transcript: ENST00000483465
  gene symbol: IFT80
  hgvsc: ENST00000483465.1:c.-35A>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420758
  ensembl transcript: ENST00000478370
  gene symbol: IFT80
  hgvsc: ENST00000478370.1:c.-35A>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000487943
  gene symbol: IFT80
  hgvsc: ENST00000487943.1:n.1706A>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000419458
  ensembl transcript: ENST00000475677
  gene symbol: IFT80
  hgvsc: ENST00000475677.1:c.-35A>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000477495
  gene symbol: IFT80
  hgvsc: ENST00000477495.1:n.523A>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420646
  ensembl transcript: ENST00000496589
  gene symbol: IFT80
  hgvsc: ENST00000496589.1:c.-35A>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418497
  ensembl transcript: ENST00000482317
  gene symbol: IFT80
  hgvsc: ENST00000482317.1:c.*114A>C
  variant of: http://identifiers.org/hgnc/29262
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3104
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27916
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5556
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9245
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu126Ala
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

3-160093668-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160093668
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160093668
    reference: chr 3
allele count: 2
allele frequency: 1.843827786484742e-5
allele num: 108470
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418602
  ensembl transcript: ENST00000465537
  gene symbol: IFT80
  hgvsc: ENST00000465537.1:c.-41T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420260
  ensembl transcript: ENST00000484963
  gene symbol: IFT80
  hgvsc: ENST00000484963.1:c.26T>C
  hgvsp: ENSP00000420260.1:p.Val9Ala
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420646
  ensembl transcript: ENST00000496589
  gene symbol: IFT80
  hgvsc: ENST00000496589.1:c.-41T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000312778
  ensembl transcript: ENST00000326448
  gene symbol: IFT80
  hgvsc: ENST00000326448.7:c.371T>C
  hgvsp: ENSP00000312778.7:p.Val124Ala
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.953-9728T>C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417057
  ensembl transcript: ENST00000468218
  gene symbol: IFT80
  hgvsc: ENST00000468218.1:c.-41T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417861
  ensembl transcript: ENST00000486856
  gene symbol: IFT80
  hgvsc: ENST00000486856.1:c.-41T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000487943
  gene symbol: IFT80
  hgvsc: ENST00000487943.1:n.1700T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000419458
  ensembl transcript: ENST00000475677
  gene symbol: IFT80
  hgvsc: ENST00000475677.1:c.-41T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000478460
  gene symbol: IFT80
  hgvsc: ENST00000478460.1:n.188T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418196
  ensembl transcript: ENST00000483465
  gene symbol: IFT80
  hgvsc: ENST00000483465.1:c.-41T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000477495
  gene symbol: IFT80
  hgvsc: ENST00000477495.1:n.517T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418497
  ensembl transcript: ENST00000482317
  gene symbol: IFT80
  hgvsc: ENST00000482317.1:c.*108T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420001
  ensembl transcript: ENST00000498409
  gene symbol: IFT80
  hgvsc: ENST00000498409.1:c.371T>C
  hgvsp: ENSP00000420001.1:p.Val124Ala
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000472773
  gene symbol: IFT80
  hgvsc: ENST00000472773.1:n.495T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420758
  ensembl transcript: ENST00000478370
  gene symbol: IFT80
  hgvsc: ENST00000478370.1:c.-41T>C
  variant of: http://identifiers.org/hgnc/29262
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5916
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7849
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3108
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24495
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val124Ala
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ

3-160093669-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160093669
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160093669
    reference: chr 3
allele count: 5
allele frequency: 4.634607541433392e-5
allele num: 107884
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000478460
  gene symbol: IFT80
  hgvsc: ENST00000478460.1:n.188-1G>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417057
  ensembl transcript: ENST00000468218
  gene symbol: IFT80
  hgvsc: ENST00000468218.1:c.-41-1G>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420758
  ensembl transcript: ENST00000478370
  gene symbol: IFT80
  hgvsc: ENST00000478370.1:c.-41-1G>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418196
  ensembl transcript: ENST00000483465
  gene symbol: IFT80
  hgvsc: ENST00000483465.1:c.-41-1G>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000487943
  gene symbol: IFT80
  hgvsc: ENST00000487943.1:n.1700-1G>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000312778
  ensembl transcript: ENST00000326448
  gene symbol: IFT80
  hgvsc: ENST00000326448.7:c.371-1G>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418602
  ensembl transcript: ENST00000465537
  gene symbol: IFT80
  hgvsc: ENST00000465537.1:c.-41-1G>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000472773
  gene symbol: IFT80
  hgvsc: ENST00000472773.1:n.495-1G>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.953-9729G>C
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420260
  ensembl transcript: ENST00000484963
  gene symbol: IFT80
  hgvsc: ENST00000484963.1:c.26-1G>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418497
  ensembl transcript: ENST00000482317
  gene symbol: IFT80
  hgvsc: ENST00000482317.1:c.*108-1G>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420646
  ensembl transcript: ENST00000496589
  gene symbol: IFT80
  hgvsc: ENST00000496589.1:c.-41-1G>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000419458
  ensembl transcript: ENST00000475677
  gene symbol: IFT80
  hgvsc: ENST00000475677.1:c.-41-1G>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417861
  ensembl transcript: ENST00000486856
  gene symbol: IFT80
  hgvsc: ENST00000486856.1:c.-41-1G>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420001
  ensembl transcript: ENST00000498409
  gene symbol: IFT80
  hgvsc: ENST00000498409.1:c.371-1G>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000477495
  gene symbol: IFT80
  hgvsc: ENST00000477495.1:n.517-1G>C
  variant of: http://identifiers.org/hgnc/29262
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8516
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6150
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.371-1G>C
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

3-160093675-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160093675
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160093675
    reference: chr 3
allele count: 1
allele frequency: 9.589566551591868e-6
allele num: 104280
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418196
  ensembl transcript: ENST00000483465
  gene symbol: IFT80
  hgvsc: ENST00000483465.1:c.-41-7T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417861
  ensembl transcript: ENST00000486856
  gene symbol: IFT80
  hgvsc: ENST00000486856.1:c.-41-7T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420001
  ensembl transcript: ENST00000498409
  gene symbol: IFT80
  hgvsc: ENST00000498409.1:c.371-7T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000312778
  ensembl transcript: ENST00000326448
  gene symbol: IFT80
  hgvsc: ENST00000326448.7:c.371-7T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417057
  ensembl transcript: ENST00000468218
  gene symbol: IFT80
  hgvsc: ENST00000468218.1:c.-41-7T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420646
  ensembl transcript: ENST00000496589
  gene symbol: IFT80
  hgvsc: ENST00000496589.1:c.-41-7T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000477495
  gene symbol: IFT80
  hgvsc: ENST00000477495.1:n.517-7T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000487943
  gene symbol: IFT80
  hgvsc: ENST00000487943.1:n.1700-7T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420260
  ensembl transcript: ENST00000484963
  gene symbol: IFT80
  hgvsc: ENST00000484963.1:c.26-7T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000419458
  ensembl transcript: ENST00000475677
  gene symbol: IFT80
  hgvsc: ENST00000475677.1:c.-41-7T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.953-9735T>C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418602
  ensembl transcript: ENST00000465537
  gene symbol: IFT80
  hgvsc: ENST00000465537.1:c.-41-7T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000478460
  gene symbol: IFT80
  hgvsc: ENST00000478460.1:n.188-7T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418497
  ensembl transcript: ENST00000482317
  gene symbol: IFT80
  hgvsc: ENST00000482317.1:c.*108-7T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000472773
  gene symbol: IFT80
  hgvsc: ENST00000472773.1:n.495-7T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420758
  ensembl transcript: ENST00000478370
  gene symbol: IFT80
  hgvsc: ENST00000478370.1:c.-41-7T>C
  variant of: http://identifiers.org/hgnc/29262
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3735
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7853
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.371-7T>C
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum

3-160093678-G-GA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160093678
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160093679
    reference: chr 3
allele count: 34
allele frequency: 3.572554376379111e-4
allele num: 95170
alternate allele: GA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417861
  ensembl transcript: ENST00000486856
  gene symbol: IFT80
  hgvsc: ENST00000486856.1:c.-41-11dupT
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420260
  ensembl transcript: ENST00000484963
  gene symbol: IFT80
  hgvsc: ENST00000484963.1:c.26-11dupT
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000487943
  gene symbol: IFT80
  hgvsc: ENST00000487943.1:n.1700-11dupT
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420758
  ensembl transcript: ENST00000478370
  gene symbol: IFT80
  hgvsc: ENST00000478370.1:c.-41-11dupT
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418602
  ensembl transcript: ENST00000465537
  gene symbol: IFT80
  hgvsc: ENST00000465537.1:c.-41-11dupT
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000419458
  ensembl transcript: ENST00000475677
  gene symbol: IFT80
  hgvsc: ENST00000475677.1:c.-41-11dupT
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420646
  ensembl transcript: ENST00000496589
  gene symbol: IFT80
  hgvsc: ENST00000496589.1:c.-41-11dupT
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418196
  ensembl transcript: ENST00000483465
  gene symbol: IFT80
  hgvsc: ENST00000483465.1:c.-41-11dupT
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418497
  ensembl transcript: ENST00000482317
  gene symbol: IFT80
  hgvsc: ENST00000482317.1:c.*108-11dupT
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000478460
  gene symbol: IFT80
  hgvsc: ENST00000478460.1:n.188-11dupT
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000312778
  ensembl transcript: ENST00000326448
  gene symbol: IFT80
  hgvsc: ENST00000326448.7:c.371-11dupT
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420001
  ensembl transcript: ENST00000498409
  gene symbol: IFT80
  hgvsc: ENST00000498409.1:c.371-11dupT
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417057
  ensembl transcript: ENST00000468218
  gene symbol: IFT80
  hgvsc: ENST00000468218.1:c.-41-11dupT
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.953-9739dupT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000477495
  gene symbol: IFT80
  hgvsc: ENST00000477495.1:n.517-11dupT
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000472773
  gene symbol: IFT80
  hgvsc: ENST00000472773.1:n.495-11dupT
  variant of: http://identifiers.org/hgnc/29262
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14280
  bin: 2.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4049
  bin: 1.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13493
  bin: 1.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 7520
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4057
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum

3-160093678-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160093678
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160093678
    reference: chr 3
allele count: 429
allele frequency: 4.507723021960702e-3
allele num: 95170
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000472773
  gene symbol: IFT80
  hgvsc: ENST00000472773.1:n.495-10C>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420260
  ensembl transcript: ENST00000484963
  gene symbol: IFT80
  hgvsc: ENST00000484963.1:c.26-10C>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000487943
  gene symbol: IFT80
  hgvsc: ENST00000487943.1:n.1700-10C>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418196
  ensembl transcript: ENST00000483465
  gene symbol: IFT80
  hgvsc: ENST00000483465.1:c.-41-10C>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418602
  ensembl transcript: ENST00000465537
  gene symbol: IFT80
  hgvsc: ENST00000465537.1:c.-41-10C>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000477495
  gene symbol: IFT80
  hgvsc: ENST00000477495.1:n.517-10C>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420758
  ensembl transcript: ENST00000478370
  gene symbol: IFT80
  hgvsc: ENST00000478370.1:c.-41-10C>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000419458
  ensembl transcript: ENST00000475677
  gene symbol: IFT80
  hgvsc: ENST00000475677.1:c.-41-10C>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417861
  ensembl transcript: ENST00000486856
  gene symbol: IFT80
  hgvsc: ENST00000486856.1:c.-41-10C>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418497
  ensembl transcript: ENST00000482317
  gene symbol: IFT80
  hgvsc: ENST00000482317.1:c.*108-10C>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420646
  ensembl transcript: ENST00000496589
  gene symbol: IFT80
  hgvsc: ENST00000496589.1:c.-41-10C>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000478460
  gene symbol: IFT80
  hgvsc: ENST00000478460.1:n.188-10C>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417057
  ensembl transcript: ENST00000468218
  gene symbol: IFT80
  hgvsc: ENST00000468218.1:c.-41-10C>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000312778
  ensembl transcript: ENST00000326448
  gene symbol: IFT80
  hgvsc: ENST00000326448.7:c.371-10C>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420001
  ensembl transcript: ENST00000498409
  gene symbol: IFT80
  hgvsc: ENST00000498409.1:c.371-10C>A
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.953-9738C>A
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1673
  bin: 4.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 5.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 13493
  bin: 1.25e1
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 8004
  bin: 2.75e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 4049
  bin: 1.75e1
  variant carriers: 81
genotype quality: GenotypeQuality
num of homozygotes: 4
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: African
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD

3-160093678-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160093678
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160093677
    reference: chr 3
allele count: 85
allele frequency: 8.931385940947777e-4
allele num: 95170
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420758
  ensembl transcript: ENST00000478370
  gene symbol: IFT80
  hgvsc: ENST00000478370.1:c.-41-11delT
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417057
  ensembl transcript: ENST00000468218
  gene symbol: IFT80
  hgvsc: ENST00000468218.1:c.-41-11delT
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.953-9739delT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417861
  ensembl transcript: ENST00000486856
  gene symbol: IFT80
  hgvsc: ENST00000486856.1:c.-41-11delT
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418497
  ensembl transcript: ENST00000482317
  gene symbol: IFT80
  hgvsc: ENST00000482317.1:c.*108-11delT
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000487943
  gene symbol: IFT80
  hgvsc: ENST00000487943.1:n.1700-11delT
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000419458
  ensembl transcript: ENST00000475677
  gene symbol: IFT80
  hgvsc: ENST00000475677.1:c.-41-11delT
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420646
  ensembl transcript: ENST00000496589
  gene symbol: IFT80
  hgvsc: ENST00000496589.1:c.-41-11delT
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418602
  ensembl transcript: ENST00000465537
  gene symbol: IFT80
  hgvsc: ENST00000465537.1:c.-41-11delT
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420001
  ensembl transcript: ENST00000498409
  gene symbol: IFT80
  hgvsc: ENST00000498409.1:c.371-11delT
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000478460
  gene symbol: IFT80
  hgvsc: ENST00000478460.1:n.188-11delT
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000472773
  gene symbol: IFT80
  hgvsc: ENST00000472773.1:n.495-11delT
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418196
  ensembl transcript: ENST00000483465
  gene symbol: IFT80
  hgvsc: ENST00000483465.1:c.-41-11delT
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000312778
  ensembl transcript: ENST00000326448
  gene symbol: IFT80
  hgvsc: ENST00000326448.7:c.371-11delT
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000477495
  gene symbol: IFT80
  hgvsc: ENST00000477495.1:n.517-11delT
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420260
  ensembl transcript: ENST00000484963
  gene symbol: IFT80
  hgvsc: ENST00000484963.1:c.26-11delT
  variant of: http://identifiers.org/hgnc/29262
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2391
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1673
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4057
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 7520
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: GA
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

http://identifiers.org/exac.variant/3-160093687-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160093687
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160093687
    reference: chr 3
allele count: 10
allele frequency: 1.053141521157613e-4
allele num: 94954
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420758
  ensembl transcript: ENST00000478370
  gene symbol: IFT80
  hgvsc: ENST00000478370.1:c.-41-19T>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000487943
  gene symbol: IFT80
  hgvsc: ENST00000487943.1:n.1700-19T>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.953-9747T>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418196
  ensembl transcript: ENST00000483465
  gene symbol: IFT80
  hgvsc: ENST00000483465.1:c.-41-19T>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417861
  ensembl transcript: ENST00000486856
  gene symbol: IFT80
  hgvsc: ENST00000486856.1:c.-41-19T>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000312778
  ensembl transcript: ENST00000326448
  gene symbol: IFT80
  hgvsc: ENST00000326448.7:c.371-19T>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417057
  ensembl transcript: ENST00000468218
  gene symbol: IFT80
  hgvsc: ENST00000468218.1:c.-41-19T>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000472773
  gene symbol: IFT80
  hgvsc: ENST00000472773.1:n.495-19T>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418602
  ensembl transcript: ENST00000465537
  gene symbol: IFT80
  hgvsc: ENST00000465537.1:c.-41-19T>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000477495
  gene symbol: IFT80
  hgvsc: ENST00000477495.1:n.517-19T>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000478460
  gene symbol: IFT80
  hgvsc: ENST00000478460.1:n.188-19T>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420260
  ensembl transcript: ENST00000484963
  gene symbol: IFT80
  hgvsc: ENST00000484963.1:c.26-19T>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418497
  ensembl transcript: ENST00000482317
  gene symbol: IFT80
  hgvsc: ENST00000482317.1:c.*108-19T>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420001
  ensembl transcript: ENST00000498409
  gene symbol: IFT80
  hgvsc: ENST00000498409.1:c.371-19T>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000419458
  ensembl transcript: ENST00000475677
  gene symbol: IFT80
  hgvsc: ENST00000475677.1:c.-41-19T>G
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420646
  ensembl transcript: ENST00000496589
  gene symbol: IFT80
  hgvsc: ENST00000496589.1:c.-41-19T>G
  variant of: http://identifiers.org/hgnc/29262
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7741
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2818
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9908
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6196
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1908
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2594
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20466
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

3-160093699-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160093699
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160093699
    reference: chr 3
allele count: 1
allele frequency: 1.162628470445984e-5
allele num: 86012
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417057
  ensembl transcript: ENST00000468218
  gene symbol: IFT80
  hgvsc: ENST00000468218.1:c.-41-31A>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420646
  ensembl transcript: ENST00000496589
  gene symbol: IFT80
  hgvsc: ENST00000496589.1:c.-41-31A>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000477495
  gene symbol: IFT80
  hgvsc: ENST00000477495.1:n.517-31A>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418196
  ensembl transcript: ENST00000483465
  gene symbol: IFT80
  hgvsc: ENST00000483465.1:c.-41-31A>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000312778
  ensembl transcript: ENST00000326448
  gene symbol: IFT80
  hgvsc: ENST00000326448.7:c.371-31A>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420260
  ensembl transcript: ENST00000484963
  gene symbol: IFT80
  hgvsc: ENST00000484963.1:c.26-31A>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417861
  ensembl transcript: ENST00000486856
  gene symbol: IFT80
  hgvsc: ENST00000486856.1:c.-41-31A>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000478460
  gene symbol: IFT80
  hgvsc: ENST00000478460.1:n.188-31A>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000472773
  gene symbol: IFT80
  hgvsc: ENST00000472773.1:n.495-31A>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000487943
  gene symbol: IFT80
  hgvsc: ENST00000487943.1:n.1700-31A>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418497
  ensembl transcript: ENST00000482317
  gene symbol: IFT80
  hgvsc: ENST00000482317.1:c.*108-31A>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418602
  ensembl transcript: ENST00000465537
  gene symbol: IFT80
  hgvsc: ENST00000465537.1:c.-41-31A>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.953-9759A>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420001
  ensembl transcript: ENST00000498409
  gene symbol: IFT80
  hgvsc: ENST00000498409.1:c.371-31A>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420758
  ensembl transcript: ENST00000478370
  gene symbol: IFT80
  hgvsc: ENST00000478370.1:c.-41-31A>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000419458
  ensembl transcript: ENST00000475677
  gene symbol: IFT80
  hgvsc: ENST00000475677.1:c.-41-31A>T
  variant of: http://identifiers.org/hgnc/29262
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1821
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4777
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21800
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11586
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3933
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum

3-160095184-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160095184
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160095184
    reference: chr 3
allele count: 1
allele frequency: 8.539126276599378e-6
allele num: 117108
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418497
  ensembl transcript: ENST00000482317
  gene symbol: IFT80
  hgvsc: ENST00000482317.1:c.*107+34A>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418602
  ensembl transcript: ENST00000465537
  gene symbol: IFT80
  hgvsc: ENST00000465537.1:c.-42+34A>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417057
  ensembl transcript: ENST00000468218
  gene symbol: IFT80
  hgvsc: ENST00000468218.1:c.-42+34A>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000312778
  ensembl transcript: ENST00000326448
  gene symbol: IFT80
  hgvsc: ENST00000326448.7:c.370+34A>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000477495
  gene symbol: IFT80
  hgvsc: ENST00000477495.1:n.516+34A>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420758
  ensembl transcript: ENST00000478370
  gene symbol: IFT80
  hgvsc: ENST00000478370.1:c.-42+34A>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000487943
  gene symbol: IFT80
  hgvsc: ENST00000487943.1:n.1699+34A>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000419458
  ensembl transcript: ENST00000475677
  gene symbol: IFT80
  hgvsc: ENST00000475677.1:c.-42+34A>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417861
  ensembl transcript: ENST00000486856
  gene symbol: IFT80
  hgvsc: ENST00000486856.1:c.-42+34A>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420646
  ensembl transcript: ENST00000496589
  gene symbol: IFT80
  hgvsc: ENST00000496589.1:c.-42+34A>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000472773
  gene symbol: IFT80
  hgvsc: ENST00000472773.1:n.494+34A>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420001
  ensembl transcript: ENST00000498409
  gene symbol: IFT80
  hgvsc: ENST00000498409.1:c.370+34A>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420260
  ensembl transcript: ENST00000484963
  gene symbol: IFT80
  hgvsc: ENST00000484963.1:c.25+34A>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418196
  ensembl transcript: ENST00000483465
  gene symbol: IFT80
  hgvsc: ENST00000483465.1:c.-42+34A>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.953-11244A>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000478460
  gene symbol: IFT80
  hgvsc: ENST00000478460.1:n.187+34A>T
  variant of: http://identifiers.org/hgnc/29262
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1863
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS

http://identifiers.org/exac.variant/3-160095186-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160095186
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160095186
    reference: chr 3
allele count: 1
allele frequency: 8.518032675173342e-6
allele num: 117398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000419458
  ensembl transcript: ENST00000475677
  gene symbol: IFT80
  hgvsc: ENST00000475677.1:c.-42+32G>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000477495
  gene symbol: IFT80
  hgvsc: ENST00000477495.1:n.516+32G>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417057
  ensembl transcript: ENST00000468218
  gene symbol: IFT80
  hgvsc: ENST00000468218.1:c.-42+32G>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000478460
  gene symbol: IFT80
  hgvsc: ENST00000478460.1:n.187+32G>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420260
  ensembl transcript: ENST00000484963
  gene symbol: IFT80
  hgvsc: ENST00000484963.1:c.25+32G>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420646
  ensembl transcript: ENST00000496589
  gene symbol: IFT80
  hgvsc: ENST00000496589.1:c.-42+32G>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000487943
  gene symbol: IFT80
  hgvsc: ENST00000487943.1:n.1699+32G>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418602
  ensembl transcript: ENST00000465537
  gene symbol: IFT80
  hgvsc: ENST00000465537.1:c.-42+32G>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420001
  ensembl transcript: ENST00000498409
  gene symbol: IFT80
  hgvsc: ENST00000498409.1:c.370+32G>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420758
  ensembl transcript: ENST00000478370
  gene symbol: IFT80
  hgvsc: ENST00000478370.1:c.-42+32G>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417861
  ensembl transcript: ENST00000486856
  gene symbol: IFT80
  hgvsc: ENST00000486856.1:c.-42+32G>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418497
  ensembl transcript: ENST00000482317
  gene symbol: IFT80
  hgvsc: ENST00000482317.1:c.*107+32G>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000312778
  ensembl transcript: ENST00000326448
  gene symbol: IFT80
  hgvsc: ENST00000326448.7:c.370+32G>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418196
  ensembl transcript: ENST00000483465
  gene symbol: IFT80
  hgvsc: ENST00000483465.1:c.-42+32G>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.953-11246G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000472773
  gene symbol: IFT80
  hgvsc: ENST00000472773.1:n.494+32G>T
  variant of: http://identifiers.org/hgnc/29262
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27772
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2092
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: South Asian
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

3-160095192-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160095192
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160095192
    reference: chr 3
allele count: 1
allele frequency: 8.42971305256769e-6
allele num: 118628
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000312778
  ensembl transcript: ENST00000326448
  gene symbol: IFT80
  hgvsc: ENST00000326448.7:c.370+26T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000472773
  gene symbol: IFT80
  hgvsc: ENST00000472773.1:n.494+26T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418602
  ensembl transcript: ENST00000465537
  gene symbol: IFT80
  hgvsc: ENST00000465537.1:c.-42+26T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420260
  ensembl transcript: ENST00000484963
  gene symbol: IFT80
  hgvsc: ENST00000484963.1:c.25+26T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000478460
  gene symbol: IFT80
  hgvsc: ENST00000478460.1:n.187+26T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417861
  ensembl transcript: ENST00000486856
  gene symbol: IFT80
  hgvsc: ENST00000486856.1:c.-42+26T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417057
  ensembl transcript: ENST00000468218
  gene symbol: IFT80
  hgvsc: ENST00000468218.1:c.-42+26T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000419458
  ensembl transcript: ENST00000475677
  gene symbol: IFT80
  hgvsc: ENST00000475677.1:c.-42+26T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000477495
  gene symbol: IFT80
  hgvsc: ENST00000477495.1:n.516+26T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420646
  ensembl transcript: ENST00000496589
  gene symbol: IFT80
  hgvsc: ENST00000496589.1:c.-42+26T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418196
  ensembl transcript: ENST00000483465
  gene symbol: IFT80
  hgvsc: ENST00000483465.1:c.-42+26T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418497
  ensembl transcript: ENST00000482317
  gene symbol: IFT80
  hgvsc: ENST00000482317.1:c.*107+26T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000487943
  gene symbol: IFT80
  hgvsc: ENST00000487943.1:n.1699+26T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.953-11252T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420758
  ensembl transcript: ENST00000478370
  gene symbol: IFT80
  hgvsc: ENST00000478370.1:c.-42+26T>C
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420001
  ensembl transcript: ENST00000498409
  gene symbol: IFT80
  hgvsc: ENST00000498409.1:c.370+26T>C
  variant of: http://identifiers.org/hgnc/29262
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29388
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
reference allele: A
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

3-160095196-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160095196
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160095196
    reference: chr 3
allele count: 7
allele frequency: 5.878401074907625e-5
allele num: 119080
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420758
  ensembl transcript: ENST00000478370
  gene symbol: IFT80
  hgvsc: ENST00000478370.1:c.-42+22C>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000419458
  ensembl transcript: ENST00000475677
  gene symbol: IFT80
  hgvsc: ENST00000475677.1:c.-42+22C>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420001
  ensembl transcript: ENST00000498409
  gene symbol: IFT80
  hgvsc: ENST00000498409.1:c.370+22C>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420646
  ensembl transcript: ENST00000496589
  gene symbol: IFT80
  hgvsc: ENST00000496589.1:c.-42+22C>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000312778
  ensembl transcript: ENST00000326448
  gene symbol: IFT80
  hgvsc: ENST00000326448.7:c.370+22C>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417861
  ensembl transcript: ENST00000486856
  gene symbol: IFT80
  hgvsc: ENST00000486856.1:c.-42+22C>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000420260
  ensembl transcript: ENST00000484963
  gene symbol: IFT80
  hgvsc: ENST00000484963.1:c.25+22C>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000417057
  ensembl transcript: ENST00000468218
  gene symbol: IFT80
  hgvsc: ENST00000468218.1:c.-42+22C>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000472773
  gene symbol: IFT80
  hgvsc: ENST00000472773.1:n.494+22C>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418196
  ensembl transcript: ENST00000483465
  gene symbol: IFT80
  hgvsc: ENST00000483465.1:c.-42+22C>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000487943
  gene symbol: IFT80
  hgvsc: ENST00000487943.1:n.1699+22C>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000477495
  gene symbol: IFT80
  hgvsc: ENST00000477495.1:n.516+22C>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418497
  ensembl transcript: ENST00000482317
  gene symbol: IFT80
  hgvsc: ENST00000482317.1:c.*107+22C>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl transcript: ENST00000478460
  gene symbol: IFT80
  hgvsc: ENST00000478460.1:n.187+22C>T
  variant of: http://identifiers.org/hgnc/29262
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.953-11256C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068885
  ensembl protein: ENSP00000418602
  ensembl transcript: ENST00000465537
  gene symbol: IFT80
  hgvsc: ENST00000465537.1:c.-42+22C>T
  variant of: http://identifiers.org/hgnc/29262
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29809
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

GenotypeQuality
all individuals: 152
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34232
bin: 9.75e1
variant carriers: 316

GenotypeQuality
all individuals: 55
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7319
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1943
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4336
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2751
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3066
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3158
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2487
bin: 7.25e1
variant carriers: 0

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

African
type: Population
allele count: 312
allele frequency: 3.001154290111581e-2
allele num: 10396
num of homozygotes: 6

Latino
type: Population
allele count: 8
allele frequency: 7.022471910112359e-4
allele num: 11392
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
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: 16498
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.508430765531544e-5
allele num: 66542
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.068e0

MQRankSum
type: SiteQuality
SIO_000300: 2.26e-1

QD
type: SiteQuality
SIO_000300: 1.467e1

DP
type: SiteQuality
SIO_000300: 3.084456e6

VQSLOD
type: SiteQuality
SIO_000300: 6.31e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.85e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.04e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.53e-2

GenotypeQuality
all individuals: 3092
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4396
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2777
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2507
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3189
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7522
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1959
bin: 8.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.771929824561403e-5
allele num: 11400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66546
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.706e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.69e0

MQRankSum
type: SiteQuality
SIO_000300: -4.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 8.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.02e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.79e-1

DP
type: SiteQuality
SIO_000300: 3.081645e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 78
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1968
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3204
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3104
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4430
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2794
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2519
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34088
bin: 9.75e1
variant carriers: 2

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66556
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11402
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.21256214380987e-4
allele num: 16494
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.98e-1

QD
type: SiteQuality
SIO_000300: 1.383e1

DP
type: SiteQuality
SIO_000300: 3.087054e6

MQ
type: SiteQuality
SIO_000300: 5.96e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.91e-1

FS
type: SiteQuality
SIO_000300: 1.769e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.104e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.52e-1

GenotypeQuality
all individuals: 66
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8047
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1969
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 22
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3105
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4444
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3204
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34092
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2520
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501862309263487e-5
allele num: 66584
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.59e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.15e-1

DP
type: SiteQuality
SIO_000300: 3.08771e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.1e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.782e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.222e1

MQ
type: SiteQuality
SIO_000300: 5.932e1

GenotypeQuality
all individuals: 2528
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3114
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1973
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3212
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8141
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4463
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34095
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2793
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11410
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66604
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: 6596
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 1.923076923076923e-4
allele num: 10400
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.87e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

QD
type: SiteQuality
SIO_000300: 1.322e1

DP
type: SiteQuality
SIO_000300: 3.089191e6

MQRankSum
type: SiteQuality
SIO_000300: 8.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.09e-1

FS
type: SiteQuality
SIO_000300: 2.48e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.62e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.0e-3

GenotypeQuality
all individuals: 3215
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 55

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2792
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variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50105073551486e-5
allele num: 66620
num of homozygotes: 0

South Asian
type: Population
allele count: 53
allele frequency: 3.212121212121212e-3
allele num: 16500
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.615384615384615e-5
allele num: 10400
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: 11414
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 4.91e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.76e-2

FS
type: SiteQuality
SIO_000300: 1.603e0

VQSLOD
type: SiteQuality
SIO_000300: 1.95e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.31e0

DP
type: SiteQuality
SIO_000300: 3.092435e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.37e-1

QD
type: SiteQuality
SIO_000300: 1.516e1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1973
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34090
bin: 9.75e1
variant carriers: 1

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: 11418
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500780405811022e-5
allele num: 66632
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -1.457e0

DP
type: SiteQuality
SIO_000300: 3.092001e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.35e0

MQ
type: SiteQuality
SIO_000300: 5.869e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.52e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.41e-1

QD
type: SiteQuality
SIO_000300: 1.3e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.264e0

GenotypeQuality
all individuals: 3219
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2530
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 3.25e1
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GenotypeQuality
all individuals: 3115
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
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: 11424
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66630
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.059871530723549e-5
allele num: 16502
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

FS
type: SiteQuality
SIO_000300: 1.465e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.75e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.72e-1

DP
type: SiteQuality
SIO_000300: 3.092428e6

QD
type: SiteQuality
SIO_000300: 1.591e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.301e0

MQ
type: SiteQuality
SIO_000300: 5.985e1

GenotypeQuality
all individuals: 16
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 19
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variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34090
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 3219
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2795
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 112
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variant carriers: 0

GenotypeQuality
all individuals: 11
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variant carriers: 0

GenotypeQuality
all individuals: 31
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variant carriers: 0

GenotypeQuality
all individuals: 4474
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3115
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66630
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11424
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.615384615384615e-5
allele num: 10400
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

VQSLOD
type: SiteQuality
SIO_000300: 7.72e-1

FS
type: SiteQuality
SIO_000300: 1.465e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.75e-1

MQ
type: SiteQuality
SIO_000300: 5.985e1

QD
type: SiteQuality
SIO_000300: 1.591e1

MQRankSum
type: SiteQuality
SIO_000300: 1.71e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.301e0

DP
type: SiteQuality
SIO_000300: 3.092428e6

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 11
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 3.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11428
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500645277469312e-5
allele num: 66638
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.43e0

MQ
type: SiteQuality
SIO_000300: 5.887e1

VQSLOD
type: SiteQuality
SIO_000300: -1.308e0

FS
type: SiteQuality
SIO_000300: 6.648e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.253e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.383e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.489e1

DP
type: SiteQuality
SIO_000300: 3.092666e6

GenotypeQuality
all individuals: 1972
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 29

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66674
num of homozygotes: 0

South Asian
type: Population
allele count: 28
allele frequency: 1.696558410082404e-3
allele num: 16504
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.45e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.1e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.25e-1

FS
type: SiteQuality
SIO_000300: 5.102e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 3.09531e6

QD
type: SiteQuality
SIO_000300: 1.267e1

MQRankSum
type: SiteQuality
SIO_000300: 2.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

GenotypeDepth
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bin: 4.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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variant carriers: 3

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 6
bin: 5.25e1
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3113
bin: 8.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11464
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.497751124437781e-5
allele num: 66700
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: 6608
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.98e-1

QD
type: SiteQuality
SIO_000300: 1.248e1

VQSLOD
type: SiteQuality
SIO_000300: 7.5e-2

DP
type: SiteQuality
SIO_000300: 3.094937e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.95e-1

BaseQRankSum
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SIO_000300: 3.59e0

MQRankSum
type: SiteQuality
SIO_000300: -6.1e-2

FS
type: SiteQuality
SIO_000300: 1.071e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.913e1

GenotypeDepth
all individuals: 862
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2170
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

African
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allele count: 2
allele frequency: 1.923076923076923e-4
allele num: 10400
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11462
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499205421126803e-5
allele num: 66702
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 6.486e0

InbreedingCoeff
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MQ
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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SIO_000300: 5.629999999999999e-1

QD
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VQSLOD
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SIO_000300: 9.2e-2

ClippingRankSum
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SIO_000300: 1.28e-1

DP
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GenotypeDepth
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variant carriers: 10

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
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: 10
allele frequency: 1.499160470136724e-4
allele num: 66704
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11464
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.253e1

MQRankSum
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SIO_000300: 1.88e-1

InbreedingCoeff
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SIO_000300: 0.0e0

ClippingRankSum
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ReadPosRankSum
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VQSLOD
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MQ
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FS
type: SiteQuality
SIO_000300: 5.23e-1

DP
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SIO_000300: 3.096247e6

BaseQRankSum
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SIO_000300: 4.38e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 2.997961386257345e-5
allele num: 66712
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

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

QD
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SIO_000300: 1.228e1

BaseQRankSum
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SIO_000300: 3.6e0

MQRankSum
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SIO_000300: 1.13e0

VQSLOD
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SIO_000300: -4.193e-1

InbreedingCoeff
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SIO_000300: -1.0e-4

ClippingRankSum
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SIO_000300: -9.02e-1

ReadPosRankSum
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SIO_000300: 2.85e0

DP
type: SiteQuality
SIO_000300: 3.096528e6

FS
type: SiteQuality
SIO_000300: 5.22e-1

MQ
type: SiteQuality
SIO_000300: 5.929e1

GenotypeDepth
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bin: 4.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 4

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 4

GenotypeQuality
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GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11480
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
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: 10398
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.497211728728189e-5
allele num: 66708
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.512401693889897e-4
allele num: 6612
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.983e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.87e-1

BaseQRankSum
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SIO_000300: 4.46e0

DP
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SIO_000300: 3.09656e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.98e0

MQRankSum
type: SiteQuality
SIO_000300: 5.49e-1

FS
type: SiteQuality
SIO_000300: 5.28e-1

QD
type: SiteQuality
SIO_000300: 1.323e1

GenotypeDepth
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bin: 1.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 9

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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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: 8648
num of homozygotes: 0

European (Non-Finnish)
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allele count: 10
allele frequency: 1.499250374812594e-4
allele num: 66700
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

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

Other
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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QD
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FS
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ClippingRankSum
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SIO_000300: -3.96e-1

MQ
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SIO_000300: 5.957e1

DP
type: SiteQuality
SIO_000300: 3.095241e6

GenotypeDepth
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bin: 8.25e1
variant carriers: 22

GenotypeDepth
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variant carriers: 11

GenotypeDepth
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variant carriers: 6

GenotypeDepth
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variant carriers: 13

GenotypeDepth
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variant carriers: 38

GenotypeDepth
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variant carriers: 15

GenotypeDepth
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variant carriers: 10

GenotypeDepth
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variant carriers: 23

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2041

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 1
allele frequency: 1.156336725254394e-4
allele num: 8648
num of homozygotes: 0

African
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allele count: 421
allele frequency: 4.055095357349258e-2
allele num: 10382
num of homozygotes: 9

Latino
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allele count: 109
allele frequency: 9.496427949120055e-3
allele num: 11478
num of homozygotes: 2

South Asian
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allele count: 97
allele frequency: 5.877363063499758e-3
allele num: 16504
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1389
allele frequency: 2.082583663188197e-2
allele num: 66696
num of homozygotes: 18

European (Finnish)
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allele count: 31
allele frequency: 4.689863842662632e-3
allele num: 6610
num of homozygotes: 0

Other
type: Population
allele count: 23
allele frequency: 2.533039647577092e-2
allele num: 908
num of homozygotes: 1

BaseQRankSum
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SIO_000300: 2.78e0

MQ
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FS
type: SiteQuality
SIO_000300: 1.283e0

VQSLOD
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InbreedingCoeff
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SIO_000300: 1.41e-2

MQRankSum
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ReadPosRankSum
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DP
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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: 7.5e0
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16458
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11424
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

Other
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European (Non-Finnish)
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allele frequency: 1.508068164681044e-5
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num of homozygotes: 0

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

GenotypeDepth
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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: 2.75e1
variant carriers: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele num: 16454
num of homozygotes: 0

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

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

African
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num of homozygotes: 0

Other
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num of homozygotes: 0

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

African
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allele count: 1
allele frequency: 9.972078181092939e-5
allele num: 10028
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66288
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

GenotypeDepth
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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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South 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
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num of homozygotes: 0

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

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

African
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allele count: 1
allele frequency: 1.007252215954875e-4
allele num: 9928
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66120
num of homozygotes: 0

MQ
type: SiteQuality
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QD
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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DP
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BaseQRankSum
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FS
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ReadPosRankSum
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VQSLOD
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GenotypeDepth
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variant carriers: 1

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

European (Finnish)
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allele frequency: 0.0e0
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South Asian
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African
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Latino
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Other
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European (Non-Finnish)
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BaseQRankSum
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DP
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ClippingRankSum
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ReadPosRankSum
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MQ
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InbreedingCoeff
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QD
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FS
type: SiteQuality
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MQRankSum
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VQSLOD
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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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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variant carriers: 30

European (Finnish)
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allele count: 2
allele frequency: 3.673769287288758e-4
allele num: 5444
num of homozygotes: 0

Other
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Latino
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East Asian
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European (Non-Finnish)
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allele frequency: 2.851823979086624e-3
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African
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South Asian
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MQ
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InbreedingCoeff
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QD
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MQRankSum
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VQSLOD
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BaseQRankSum
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DP
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FS
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SIO_000300: 1.343e0

ClippingRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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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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variant carriers: 26

Latino
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allele count: 65
allele frequency: 7.498846331333641e-3
allele num: 8668
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 895
allele frequency: 1.772487820335089e-2
allele num: 50494
num of homozygotes: 0

East Asian
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allele count: 100
allele frequency: 1.60926939169617e-2
allele num: 6214
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Other
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South Asian
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allele count: 147
allele frequency: 1.189898008742108e-2
allele num: 12354
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European (Finnish)
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allele count: 26
allele frequency: 4.775900073475386e-3
allele num: 5444
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African
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allele count: 106
allele frequency: 1.444141689373297e-2
allele num: 7340
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FS
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QD
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MQ
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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DP
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VQSLOD
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GenotypeDepth
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variant carriers: 0

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

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

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

European (Finnish)
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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: 3.076355134436719e-5
allele num: 65012
num of homozygotes: 0

East Asian
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num of homozygotes: 0

African
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Other
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Latino
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South Asian
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DP
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ReadPosRankSum
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MQRankSum
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FS
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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MQ
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InbreedingCoeff
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QD
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GenotypeDepth
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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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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65056
num of homozygotes: 0

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

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

South Asian
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allele num: 16402
num of homozygotes: 0

Other
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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num of homozygotes: 0

DP
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SIO_000300: 2.562377e6

QD
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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FS
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MQ
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SIO_000300: 5.3e1

MQRankSum
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SIO_000300: -5.773e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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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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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16342
num of homozygotes: 0

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

African
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allele count: 2
allele frequency: 2.145922746781116e-4
allele num: 9320
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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DP
type: SiteQuality
SIO_000300: 2.489017e6

VQSLOD
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FS
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SIO_000300: 0.0e0

MQRankSum
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BaseQRankSum
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QD
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ReadPosRankSum
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SIO_000300: -5.1e-1

MQ
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SIO_000300: 5.981e1

ClippingRankSum
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SIO_000300: 4.61e-1

InbreedingCoeff
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GenotypeDepth
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variant carriers: 1

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

African
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allele frequency: 2.40442414041837e-4
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Other
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num of homozygotes: 0

East Asian
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Latino
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South Asian
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European (Non-Finnish)
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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DP
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FS
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MQRankSum
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QD
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InbreedingCoeff
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MQ
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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South Asian
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Other
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East Asian
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Latino
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African
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European (Finnish)
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European (Non-Finnish)
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ReadPosRankSum
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InbreedingCoeff
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QD
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VQSLOD
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MQ
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BaseQRankSum
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FS
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MQRankSum
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ClippingRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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Latino
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num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
allele num: 7288
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9958
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.967961585389853e-5
allele num: 50814
num of homozygotes: 0

FS
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SIO_000300: 0.0e0

InbreedingCoeff
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SIO_000300: 1.8e-3

BaseQRankSum
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DP
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ClippingRankSum
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MQ
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MQRankSum
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ReadPosRankSum
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SIO_000300: 4.23e-1

VQSLOD
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SIO_000300: 2.94e-1

QD
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SIO_000300: 1.085e1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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variant carriers: 0

East Asian
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allele count: 4
allele frequency: 5.347593582887701e-4
allele num: 7480
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8520
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10104
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.921008145074535e-5
allele num: 52056
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14378
num of homozygotes: 0

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

ReadPosRankSum
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SIO_000300: -2.77e-1

FS
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MQRankSum
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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QD
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DP
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InbreedingCoeff
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SIO_000300: 2.3e-3

MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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African
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allele frequency: 2.294104152328516e-4
allele num: 8718
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 53740
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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InbreedingCoeff
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SIO_000300: 1.3e-3

ReadPosRankSum
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QD
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SIO_000300: 1.523e1

BaseQRankSum
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VQSLOD
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MQ
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SIO_000300: 6.0e1

MQRankSum
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SIO_000300: 1.18e0

DP
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SIO_000300: 1.440513e6

FS
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SIO_000300: 2.459e0

ClippingRankSum
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SIO_000300: 1.1e-1

GenotypeDepth
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variant carriers: 0

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

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

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

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

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

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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Other
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African
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South Asian
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European (Finnish)
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East Asian
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allele num: 8214
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European (Non-Finnish)
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allele count: 0
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allele num: 57660
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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QD
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FS
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MQRankSum
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BaseQRankSum
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MQ
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InbreedingCoeff
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DP
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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GenotypeDepth
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variant carriers: 0

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

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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num of homozygotes: 0

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

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

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

Latino
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allele frequency: 9.137426900584795e-5
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ReadPosRankSum
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DP
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BaseQRankSum
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QD
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ClippingRankSum
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MQ
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InbreedingCoeff
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VQSLOD
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FS
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SIO_000300: 5.859e0

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

East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele num: 10960
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
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VQSLOD
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SIO_000300: 1.17e0

DP
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QD
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ReadPosRankSum
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MQRankSum
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SIO_000300: 9.61e-1

InbreedingCoeff
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SIO_000300: -7.0e-4

ClippingRankSum
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BaseQRankSum
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MQ
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SIO_000300: 6.045e1

FS
type: SiteQuality
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6368
num of homozygotes: 0

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

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

African
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allele num: 9700
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Other
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South Asian
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East Asian
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MQ
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ReadPosRankSum
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QD
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DP
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ClippingRankSum
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FS
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InbreedingCoeff
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MQRankSum
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VQSLOD
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BaseQRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
type: Population
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allele num: 9712
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Other
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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InbreedingCoeff
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DP
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MQRankSum
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VQSLOD
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QD
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MQ
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FS
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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Other
type: Population
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Latino
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European (Finnish)
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allele num: 6362
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South Asian
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African
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East Asian
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European (Non-Finnish)
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allele count: 9
allele frequency: 1.451519256822141e-4
allele num: 62004
num of homozygotes: 0

ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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MQ
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SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.32e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

QD
type: SiteQuality
SIO_000300: 1.119e1

DP
type: SiteQuality
SIO_000300: 1.610191e6

ClippingRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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variant carriers: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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: 1.618437237003949e-5
allele num: 61788
num of homozygotes: 0

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

VQSLOD
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DP
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MQ
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ClippingRankSum
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FS
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SIO_000300: 5.055e0

MQRankSum
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InbreedingCoeff
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SIO_000300: -8.0e-4

BaseQRankSum
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SIO_000300: 5.02e0

ReadPosRankSum
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SIO_000300: 7.54e-1

QD
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GenotypeDepth
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variant carriers: 1

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

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

European (Non-Finnish)
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allele count: 7
allele frequency: 1.137360673317519e-4
allele num: 61546
num of homozygotes: 0

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

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

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

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

InbreedingCoeff
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SIO_000300: -9.0e-4

FS
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MQRankSum
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QD
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MQ
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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SIO_000300: -4.4e-2

BaseQRankSum
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SIO_000300: 1.15e0

DP
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SIO_000300: 1.60039e6

GenotypeDepth
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variant carriers: 0

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

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

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

Latino
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allele frequency: 9.245562130177515e-5
allele num: 10816
num of homozygotes: 0

South Asian
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allele count: 0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.679035561973203e-5
allele num: 59558
num of homozygotes: 0

Other
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num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -9.981e-1

MQRankSum
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DP
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QD
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FS
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ClippingRankSum
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MQ
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InbreedingCoeff
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ReadPosRankSum
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SIO_000300: -3.76e-1

BaseQRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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variant carriers: 0

Other
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num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.435363633240578e-5
allele num: 58218
num of homozygotes: 0

South Asian
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African
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allele frequency: 0.0e0
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.69e-1

InbreedingCoeff
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DP
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QD
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FS
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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MQ
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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Latino
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num of homozygotes: 0

European (Non-Finnish)
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East Asian
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allele frequency: 6.225099601593625e-4
allele num: 8032
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African
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European (Finnish)
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Other
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South Asian
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BaseQRankSum
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VQSLOD
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MQRankSum
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DP
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FS
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InbreedingCoeff
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ClippingRankSum
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QD
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MQ
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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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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European (Non-Finnish)
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num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.560229445506692e-5
allele num: 10460
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5964
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14994
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8848
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7760
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.94e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.183e0

FS
type: SiteQuality
SIO_000300: 1.445e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.92e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
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SIO_000300: 3.31e1

DP
type: SiteQuality
SIO_000300: 1.416036e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 5.570000000000001e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 11

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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bin: 2.25e1
variant carriers: 8

GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
variant carriers: 13

GenotypeQuality
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bin: 2.5e0
variant carriers: 3

GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 2

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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bin: 1.25e1
variant carriers: 14

GenotypeQuality
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variant carriers: 4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
all individuals: 2360
bin: 2.75e1
variant carriers: 8

GenotypeQuality
all individuals: 981
bin: 7.75e1
variant carriers: 1

Latino
type: Population
allele count: 4
allele frequency: 4.192872117400419e-4
allele num: 9540
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5614
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.227596366314756e-4
allele num: 8146
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 4.278379920136908e-4
allele num: 14024
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 4.289390906491278e-4
allele num: 6994
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 732
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 20
allele frequency: 3.990422984836393e-4
allele num: 50120
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.03e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.02e0

MQRankSum
type: SiteQuality
SIO_000300: 2.99e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.62e0

FS
type: SiteQuality
SIO_000300: 7.79e-1

DP
type: SiteQuality
SIO_000300: 1.439623e6

QD
type: SiteQuality
SIO_000300: 9.16e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.85e-1

GenotypeDepth
all individuals: 14280
bin: 2.25e1
variant carriers: 86

GenotypeDepth
all individuals: 301
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variant carriers: 9

GenotypeDepth
all individuals: 7520
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variant carriers: 14

GenotypeDepth
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variant carriers: 5

GenotypeDepth
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variant carriers: 24

GenotypeDepth
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variant carriers: 36

GenotypeDepth
all individuals: 1070
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variant carriers: 8

GenotypeDepth
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variant carriers: 10

GenotypeDepth
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variant carriers: 17

GenotypeDepth
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variant carriers: 6

GenotypeQuality
all individuals: 2360
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variant carriers: 0

GenotypeQuality
all individuals: 646
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variant carriers: 1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 5

GenotypeQuality
all individuals: 1118
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variant carriers: 1

GenotypeQuality
all individuals: 2405
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1870
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 5

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 404

GenotypeQuality
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variant carriers: 5

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 662
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variant carriers: 4

GenotypeQuality
all individuals: 411
bin: 8.75e1
variant carriers: 8

South Asian
type: Population
allele count: 68
allele frequency: 4.848830576155163e-3
allele num: 14024
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 297
allele frequency: 5.925778132482043e-3
allele num: 50120
num of homozygotes: 2

Other
type: Population
allele count: 1
allele frequency: 1.366120218579235e-3
allele num: 732
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6994
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 38
allele frequency: 6.768792304951906e-3
allele num: 5614
num of homozygotes: 1

African
type: Population
allele count: 9
allele frequency: 1.10483672968328e-3
allele num: 8146
num of homozygotes: 0

Latino
type: Population
allele count: 16
allele frequency: 1.677148846960168e-3
allele num: 9540
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.85e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.62e0

QD
type: SiteQuality
SIO_000300: 9.16e0

DP
type: SiteQuality
SIO_000300: 1.439623e6

MQRankSum
type: SiteQuality
SIO_000300: 2.99e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.03e-2

FS
type: SiteQuality
SIO_000300: 7.79e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.02e0

GenotypeDepth
all individuals: 8004
bin: 2.75e1
variant carriers: 27

GenotypeDepth
all individuals: 4049
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variant carriers: 25

GenotypeDepth
all individuals: 14280
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variant carriers: 40

GenotypeDepth
all individuals: 13493
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variant carriers: 10

GenotypeDepth
all individuals: 1070
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variant carriers: 1

GenotypeDepth
all individuals: 448
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variant carriers: 1

GenotypeDepth
all individuals: 170
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variant carriers: 0

GenotypeDepth
all individuals: 224
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variant carriers: 1

GenotypeDepth
all individuals: 88
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GenotypeDepth
all individuals: 129
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variant carriers: 0

GenotypeQuality
all individuals: 17679
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GenotypeQuality
all individuals: 2360
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variant carriers: 11

GenotypeQuality
all individuals: 662
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GenotypeQuality
all individuals: 824
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GenotypeQuality
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GenotypeQuality
all individuals: 646
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GenotypeQuality
all individuals: 1870
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variant carriers: 16

GenotypeQuality
all individuals: 766
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variant carriers: 10

GenotypeQuality
all individuals: 4849
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variant carriers: 13

GenotypeQuality
all individuals: 2245
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variant carriers: 0

GenotypeQuality
all individuals: 17989
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variant carriers: 13

GenotypeQuality
all individuals: 766
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variant carriers: 5

GenotypeQuality
all individuals: 740
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variant carriers: 5

GenotypeQuality
all individuals: 1118
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variant carriers: 8

GenotypeQuality
all individuals: 953
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variant carriers: 11

GenotypeQuality
all individuals: 2405
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variant carriers: 6

GenotypeQuality
all individuals: 1823
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GenotypeQuality
all individuals: 411
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variant carriers: 0

GenotypeQuality
all individuals: 981
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variant carriers: 1

GenotypeQuality
all individuals: 889
bin: 1.75e1
variant carriers: 16

South Asian
type: Population
allele count: 12
allele frequency: 8.556759840273817e-4
allele num: 14024
num of homozygotes: 0

Latino
type: Population
allele count: 9
allele frequency: 9.433962264150943e-4
allele num: 9540
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.562522265764161e-4
allele num: 5614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 43
allele frequency: 8.579409417398244e-4
allele num: 50120
num of homozygotes: 0

East Asian
type: Population
allele count: 7
allele frequency: 1.000857878181298e-3
allele num: 6994
num of homozygotes: 0

African
type: Population
allele count: 12
allele frequency: 1.473115639577707e-3
allele num: 8146
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 732
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.439623e6

QD
type: SiteQuality
SIO_000300: 9.16e0

VQSLOD
type: SiteQuality
SIO_000300: 3.02e0

MQRankSum
type: SiteQuality
SIO_000300: 2.99e-1

FS
type: SiteQuality
SIO_000300: 7.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.03e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 5.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.85e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.62e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
all individuals: 115
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 147
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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
all individuals: 991
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GenotypeQuality
all individuals: 307
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 49756
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6904
num of homozygotes: 0

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

African
type: Population
allele count: 10
allele frequency: 1.251877816725088e-3
allele num: 7988
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5534
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9858
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14184
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.83e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.24e-1

DP
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SIO_000300: 1.245001e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -7.7e-3

VQSLOD
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SIO_000300: -1.314e-1

QD
type: SiteQuality
SIO_000300: 1.693e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.64e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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
all individuals: 1612
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5154
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.689189189189189e-4
allele num: 5920
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9388
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13432
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 690
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6966
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44462
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.38e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
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MQRankSum
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FS
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VQSLOD
type: SiteQuality
SIO_000300: 4.26e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

DP
type: SiteQuality
SIO_000300: 1.121499e6

QD
type: SiteQuality
SIO_000300: 1.068e1

BaseQRankSum
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SIO_000300: -1.67e0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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variant carriers: 0

GenotypeQuality
all individuals: 974
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 5.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11166
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.159152500615915e-5
allele num: 16236
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9840
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64154
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8330
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.831e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.98e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.779e0

MQRankSum
type: SiteQuality
SIO_000300: -1.194e0

DP
type: SiteQuality
SIO_000300: 1.506405e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.53e-1

QD
type: SiteQuality
SIO_000300: 1.894e1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeDepth
all individuals: 121
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 727
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5855
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 500
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1728
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1112
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 45
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 195
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 59
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variant carriers: 0

GenotypeDepth
all individuals: 19415
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 371
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 859
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 399
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6496
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.193032689095681e-4
allele num: 8382
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64334
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11174
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9862
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16262
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.489e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.09e-1

DP
type: SiteQuality
SIO_000300: 1.518121e6

MQRankSum
type: SiteQuality
SIO_000300: 2.34e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.56e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.54e-1

QD
type: SiteQuality
SIO_000300: 1.263e1

GenotypeDepth
all individuals: 195
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 915
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 275
bin: 4.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 82
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variant carriers: 0

GenotypeDepth
all individuals: 102
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variant carriers: 0

GenotypeDepth
all individuals: 121
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variant carriers: 0

GenotypeDepth
all individuals: 218
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variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 48152
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 226
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variant carriers: 0

GenotypeQuality
all individuals: 995
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 886
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variant carriers: 0

GenotypeQuality
all individuals: 271
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
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variant carriers: 0

GenotypeQuality
all individuals: 1250
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5477
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 326
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9976
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.535155050660117e-5
allele num: 65140
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16334
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11250
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.852e0

DP
type: SiteQuality
SIO_000300: 1.542504e6

MQRankSum
type: SiteQuality
SIO_000300: 5.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

QD
type: SiteQuality
SIO_000300: 1.486e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.856e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.69e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e-1

GenotypeDepth
all individuals: 6081
bin: 3.25e1
variant carriers: 3

GenotypeDepth
all individuals: 45
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20003
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 45
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variant carriers: 0

GenotypeDepth
all individuals: 25
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variant carriers: 0

GenotypeDepth
all individuals: 167
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variant carriers: 0

GenotypeDepth
all individuals: 83
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variant carriers: 1

GenotypeDepth
all individuals: 59
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variant carriers: 0

GenotypeDepth
all individuals: 277
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 76
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variant carriers: 0

GenotypeQuality
all individuals: 1503
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 61
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 227
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GenotypeQuality
all individuals: 992
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variant carriers: 0

GenotypeQuality
all individuals: 27
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variant carriers: 0

GenotypeQuality
all individuals: 86
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variant carriers: 0

GenotypeQuality
all individuals: 24
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variant carriers: 0

GenotypeQuality
all individuals: 454
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variant carriers: 0

GenotypeQuality
all individuals: 5494
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variant carriers: 0

GenotypeQuality
all individuals: 82
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variant carriers: 0

GenotypeQuality
all individuals: 157
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variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 184
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variant carriers: 0

GenotypeQuality
all individuals: 269
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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: 48829
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variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11276
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10058
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6536
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65406
num of homozygotes: 0

South Asian
type: Population
allele count: 7
allele frequency: 4.281345565749236e-4
allele num: 16350
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.45e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.748e0

QD
type: SiteQuality
SIO_000300: 1.151e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.99e-1